--- title: "Introduction to TKCat" author: "Patrice Godard" date: "`r format(Sys.time(), '%B %d, %Y')`" package: "TKCat (version `r packageVersion('TKCat')`)" bibliography: TKCat.bib link-citations: yes output: rmarkdown::html_document: number_sections: yes self_contained: true toc: yes fig_width: 7 fig_height: 5 vignette: > %\VignetteIndexEntry{TKCat} %\VignetteEncoding{UTF-8} %\VignetteEngine{knitr::rmarkdown} editor_options: chunk_output_type: console --- ```{r setup, message=FALSE, echo=FALSE, include=FALSE, cache=FALSE} library(knitr) opts_chunk$set( include=TRUE, echo=TRUE, message=TRUE, warning=TRUE, cache=FALSE, cache.lazy=FALSE ) library(TKCat) igraph_available <- "igraph" %in% installed.packages()[,"Package"] ``` [redamor]: https://patzaw.github.io/ReDaMoR/ [tkcat]: https://patzaw.github.io/TKCat/ [clickhouse]: https://clickhouse.com/ [rclickhouse]: https://github.com/IMSMWU/RClickhouse [chhttp]: https://github.com/patzaw/ClickHouseHTTP [hpo]: https://hpo.jax.org/ [clinvar]: https://www.ncbi.nlm.nih.gov/clinvar/ [chembl]: https://www.ebi.ac.uk/chembl/ [bed]: https://github.com/patzaw/BED [dodo]: https://github.com/Elysheba/DODO [mygene]: https://bioconductor.org/packages/release/bioc/html/mygene.html [biomart]: https://bioconductor.org/packages/release/bioc/html/biomaRt.html ::: {style="width:200px;"} ![](TKCat.png){width="100%"} ::: # Introduction Research organizations generate, manage, and use more and more knowledge resources which can be highly heterogenous in their origin, their scope, and their structure. Making this knowledge compliant to F.A.I.R. (Findable, Accessible, Interoperable, Reusable) principles is critical for facilitating the generation of new insights leveraging it. The aim of the TKCat (Tailored Knowledge Catalog) R package is to facilitate the management of such resources that are frequently used alone or in combination in research environments. In TKCat, knowledge resources are manipulated as modeled database (MDB) objects. These objects provide access to the data tables along with a general description of the resource and a detail data model generated with [ReDaMoR][redamor] documenting the tables, their fields and their relationships. These MDB are then gathered in catalogs that can be easily explored an shared. TKCat provides tools to easily subset, filter and combine MDBs and create new catalogs suited for specific needs. Currently, there are 3 different implementations of MDBs which are supported by TKCat: in R memory (memoMDB), in files (fileMDB) and in [ClickHouse][clickhouse] (chMDB). This is document is divided in four main sections: - The first one describes how to build an MDB object, starting with a minimal example - The second section shows how to interact with MDB objects to extract and combine information of interest - The third section focuses on the use of the [ClickHouse][clickhouse] implementation of MDB (chMDB) - The fourth section corresponds to appendices providing technical information regarding [ClickHouse][clickhouse] related admin tasks and the implementation of *collections* which are used to identify and leverage potential relationships between different MDBs. # Create an MDB: a minimal example This section shows how to create an MDB object starting from a set of tables in three steps: - Create a data model - Create and validate a modeled database (MDB) by binding the data model to the dataset - Document concept collections that can be used to make bridges across different MDBs This example focuses on the [Human Phenotype Ontology (HPO)](#hpo). The HPO aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human diseases [@kohler_expansion_2019]. ## Loading example data A subset of the HPO is provided within the [ReDaMoR][redamor] package. We can read some of the tables as follow: ```{r, message=FALSE} library(readr) hpo_data_dir <- system.file("examples/HPO-subset", package="ReDaMoR") ``` The `HPO_hp` table gathers human phenotype identifiers, names and descriptions: ```{r, message=FALSE} HPO_hp <- readr::read_tsv( file.path(hpo_data_dir, "HPO_hp.txt") ) HPO_hp ``` The `HPO_diseases` table gathers disease identifiers and labels from different disease database. ```{r, message=FALSE} HPO_diseases <- readr::read_tsv( file.path(hpo_data_dir, "HPO_diseases.txt") ) HPO_diseases ``` The `HPO_diseaseHP` table indicates which phenotype is triggered by each disease. ```{r, message=FALSE} HPO_diseaseHP <- readr::read_tsv( file.path(hpo_data_dir, "HPO_diseaseHP.txt") ) HPO_diseaseHP ``` ## Creating a data model with ReDaMoR The [ReDaMoR][redamor] package can be used for drafting a data model from a set of table: ```{r, out.height="200px"} mhpo_dm <- ReDaMoR::df_to_model(HPO_hp, HPO_diseases, HPO_diseaseHP) if(igraph_available){ mhpo_dm %>% ReDaMoR::auto_layout(lengthMultiplier=80) %>% plot() }else{ mhpo_dm %>% plot() } ``` This data model is minimal: only the name of the tables, their fields and their types are documented. There is no additional constrain regarding the uniqueness or the completeness of the fields. Also there is no information regarding the relationships between the different tables. The `model_relational_data()` can be used to improve the documentation of the dataset according to what we know about it. This function raises a graphical interface for manipulating and modifying the data model (see [ReDaMoR documentation](https://patzaw.github.io/ReDaMoR/articles/ReDaMoR.html)). ```{r, eval=FALSE} mhpo_dm <- ReDaMoR::model_relational_data(mhpo_dm) ``` ```{r, echo=FALSE} mhpo_dm <- ReDaMoR::read_json_data_model( system.file("examples/HPO-model.json", package="ReDaMoR") )[c("HPO_hp", "HPO_diseases", "HPO_diseaseHP")] ``` Below is the model we get after completing it using the function above. ```{r, out.height="200px"} plot(mhpo_dm) ``` In this model, we can see that: - *id* is the **primary key** of the *HPO_hp* table, and therefore this field must be **unique**; - *db*/*id* form the **primary key** of the *HPO_diseases* table and must also be **unique** when taken together; - all the fields excepted *description* (in the *HPO_hp* table) are complete (they cannot be NA); - the *HPO_diseaseHP* table refers to the *HPO_hp* table using its *HPO_hp* fields and to the *HPO_diseases* table using its *db* and *id* fields (such details are shown when putting cursor over the edges). Moreover, some comments are added at the table and at the field level to give a better understanding of the data (shown when putting the cursor over the tables). ## Binding the model to the data in an MDB object The data model can be explicitly bound to the data in an MDB (Modeled DataBase) object as shown below. However, when trying to build the object with the tables we've read and the data model we have edited, we get the following error message. ```{r, echo=FALSE, results='hide'} try( mhpo_db <- memoMDB( dataTables=list( HPO_hp=HPO_hp, HPO_diseases=HPO_diseases, HPO_diseaseHP=HPO_diseaseHP ), dataModel=mhpo_dm, dbInfo=list(name="miniHPO") ), silent=TRUE ) ``` ```{r, eval=FALSE} mhpo_db <- memoMDB( dataTables=list( HPO_hp=HPO_hp, HPO_diseases=HPO_diseases, HPO_diseaseHP=HPO_diseaseHP ), dataModel=mhpo_dm, dbInfo=list(name="miniHPO") ) ```
```{r, echo=FALSE, results='asis'} get_confrontation_report() %>% format_confrontation_report_md( title="miniHPO", level=2, numbered=FALSE ) %>% cat() ```
Indeed, according to the edited model (not the very first one automatically created by ReDaMoR), the `HPO_hp$level` field should contain *integer* values and the `HPO_diseases$id` and `HPO_diseaseHP$id` fields should contain *character* values. The type of the data is among the data model features that are automatically checked when building an MDB object (along with uniqueness or NA values for example). To avoid this error, we can either change the type of the columns of the data tables: ```{r} HPO_hp <- mutate(HPO_hp, level=as.integer(level)) HPO_diseases <- mutate(HPO_diseases, id=as.character(id)) HPO_diseaseHP <- mutate(HPO_diseaseHP, id=as.character(id)) mhpo_db <- memoMDB( dataTables=list( HPO_hp=HPO_hp, HPO_diseases=HPO_diseases, HPO_diseaseHP=HPO_diseaseHP ), dataModel=mhpo_dm, dbInfo=list(name="miniHPO") ) ``` Or we can use the data model to read the data in a fileMDB object: ```{r} f_mhpo_db <- read_fileMDB( path=hpo_data_dir, dbInfo=list(name="miniHPO"), dataModel=mhpo_dm ) ``` The `read_fileMDB()` function identifies the text files to read in `path` according to the `dataModel`. It uses the types documented in the data model to read the files. By default, the field delimiter is `\t`, but another can be defined by writing a `delim` slot in the `dbInfo` parameter (e.g. `dbInfo=list(name="miniHPO", delim="\t")`). As shown in the message above, by default, `read_fileMDB()` does not perform optional checks (*unique* fields, *not nullable* fields, *foreign keys*) and it only checks data on the 10 first records. Also, the fileMDB data are not loaded in memory until requested by the user. The object is then smaller than the memoMDB object even if they gather the same information. ```{r} print(object.size(mhpo_db), units="Kb") print(object.size(f_mhpo_db), units="Kb") compare_MDB(former=mhpo_db, new=f_mhpo_db) %>% DT::datatable( rownames=FALSE, width="75%", options=list(dom="t", pageLength=nrow(.)) ) ``` ## Adding information about an MDB In the table above we can see that several pieces of information are expected in an MDB object even if not mandatory (*title*, *description*, *url*, *version*, *maintainer*, *timestamp*). They can be provided in the `dbInfo` parameter of the MDB creator function (e.g. `memoMDB()`) or added afterward: - *title*, *description* and *url* are used to give more details about the scope of the data and their origin. ```{r} db_info(mhpo_db)$title <- "Very small extract of the human phenotype ontology" db_info(mhpo_db)$description <- "For demonstrating ReDaMoR and TKCat capabilities, a very few information from the HPO (human phenotype ontology) has been extracted" db_info(mhpo_db)$url <- "https://hpo.jax.org/" ``` - *version* and *maintainer* are related to db information and the data model whereas *timestamp* should be used to document the data themselves. ```{r} db_info(mhpo_db)$version <- "0.1" db_info(mhpo_db)$maintainer <- "Patrice Godard" db_info(mhpo_db)$timestamp <- Sys.time() ``` All this information is displayed when printing the object: ```{r} mhpo_db ``` ## Documenting collection members {#min-coll-memb} In the HPO example, one table regards human phenotypes (*HPO_hp*) and another human diseases (*HPO_diseases*). These concepts are general and referenced in many other knowledge or data resources (e.g. database providing information about disease genetics). Therefore, documenting formally such concepts will help to identify how to connect the HPO example to other resources referencing the same or related concepts. In TKCat, these central concepts are referred as members of *collections*. *Collections* are pre-defined and members must be documented according to this definition. There are currently two collections provided within the TKCat package: ```{r} list_local_collections() ``` Additional collections can be defined by users according to their needs. Further information about collections implementation is provided in the [appendix](#collections). So far, there is no collection member documented in the HPO example described above, as indicated by the *"No collection member"* statement displayed when printing the object: ```{r} mhpo_db ``` However, as just discussed, the *HPO_hp* table refers to human phenotypes and the *HPO_diseases* table to human diseases. These concept corresponds to conditions and those tables can be documented as member of the *Condition* collection. *Condition* members are documented calling the `add_collection_member()` function on the MDB object. The two other main arguments are the name of the `collection` and the name of the `table` in the MDB object. The other arguments to be provided depend on the collection. For *Condition* members, three additional arguments must be provided: - `condition` indicate the type of the condition ("Phenotype" or "Disease") - `source` a reference source of the condition identifier - `identifier` a condition identifier The functions `get_local_collection()` and `show_collection_def()` can be used together to identify valid arguments: ```{r} get_local_collection("Condition") %>% show_collection_def() ``` When calling `add_collection_member()`, these arguments must be provided as a list with 2 elements named "value" (a character) and "static" (a logical). If "static" is TRUE, "value" corresponds to the information shared by all the rows of the table. If "static" is FALSE, "value" indicates the name of the column which provides this information for each row. The example below shows how the *HPO_hp* table is documented as a member of the *Condition* collection. ```{r} mhpo_db$HPO_hp mhpo_db <- add_collection_member( mhpo_db, collection="Condition", table="HPO_hp", condition=list(value="Phenotype", static=TRUE), source=list(value="HP", static=TRUE), identifier=list(value="id", static=FALSE) ) ``` All rows in this table correspond to a condition of type "Phenotype" (`condition=list(value="Phenotype", static=TRUE)`). The phenotype identifiers are all taken from the same source, "HP" (`source=list(value="HP", static=TRUE)`). The phenotype identifiers are provided in the "id" column of the table (`identifier=list(value="id", static=FALSE)`). The example below shows how the *HPO_disease* table is documented also as a member of the *Condition* collection. In this case, the source of disease identifier can be different from one row to the other and is provided in the "db" column (`source=list(value="db", static=FALSE)`). ```{r} mhpo_db <- add_collection_member( mhpo_db, collection="Condition", table="HPO_diseases", condition=list(value="Disease", static=TRUE), source=list(value="db", static=FALSE), identifier=list(value="id", static=FALSE) ) ``` Now, the existence of collection members is shown when printing the MDB object: ```{r} mhpo_db ``` And the documented collection members of an MDB can be displayed as following: ```{r} collection_members(mhpo_db) ``` The use of collection members to link or integrate different MDBs will be described [later](#merging-with-collections) in this document ## Writing an MDB in files {#min-writing} Once an MDB has been created and documented in can be written in a directory: ```{r, results='hide'} tmpDir <- tempdir() as_fileMDB(mhpo_db, path=tmpDir, htmlModel=FALSE) ``` The structure of the created directory is the following: ```{r, echo=FALSE} list.files( path=file.path(tmpDir, "miniHPO"), recursive=TRUE ) %>% file.path("miniHPO", .) %>% data.frame(pathString=.) %>% data.tree::as.Node() %>% data.tree::ToDataFrameTree() %>% pull(1) %>% cat(sep="\n") ``` All the data are in the *data* folder whereas the data model and collection members are written in json files in the *model* folder. The *DESCRIPTION.json* file gather db information and information about how to read the data files (i.e. `delim`, `na`). This folder can be shared and it's then easy to get all the data and the corresponding documentation from it back in R: ```{r} read_fileMDB(file.path(tmpDir, "miniHPO")) ``` Also writing these data and related information in text files make them convenient to share with people using them in other analytical environments than R. # Leveraging MDB The former section showed how to create and save an MDB object. This section describes how MDBs can be used, filtered and combined to efficiently leverage their content. As a reminder, a modeled database (MDB) in TKCat gathers the following information: - General database information including a mandatory *name* and optionally the following fields: *title*, *description*, *url*, *version* and *maintainer*. - A [ReDaMoR][redamor] data model. - A list of tables corresponding to reference concepts shared by different MDBs. The way these concepts are identified is defined in specific documents called collections. - The data themselves organized according to the data model. ## Loading example data To illustrate how MDBs can be used, some example data are provided within the [ReDaMoR][redamor] and the TKCat package. The following paragraphs show how to load them in the R session. ### HPO {#hpo} A subset of the [Human Phenotype Ontology (HPO)][hpo] is provided within the [ReDaMoR][redamor] package. The HPO aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human diseases [@kohler_expansion_2019]. An MDB object based on files (see [MDB implementations](#mdb-implementations)) can be read as shown below. As explained above, the data provided by the `path` parameter are documented with a model (`dataModel` parameter) and general information (`dbInfo` parameter). ```{r} file_hpo <- read_fileMDB( path=system.file("examples/HPO-subset", package="ReDaMoR"), dataModel=system.file("examples/HPO-model.json", package="ReDaMoR"), dbInfo=list( "name"="HPO", "title"="Data extracted from the HPO database", "description"=paste( "This is a very small subset of the HPO!", "Visit the reference URL for more information." ), "url"="http://human-phenotype-ontology.github.io/" ) ) ``` The message displayed in the console indicates if the data fit the data model. It relies on the `ReDaMoR::confront_data()` functions and check by default the first 10 rows of each file. The data model can then be drawn. ```{r} plot(data_model(file_hpo)) ``` The data model shows that this MDB contains the 3 tables taken into account in the minimal example. The additional tables provides mainly supplementary details regarding phenotype and diseases. Still, the *HPO_hp* and the *HPO_disease* table are members of the *Condition* collection and can be documented as such, as [explained above](#min-coll-memb). ```{r} file_hpo <- file_hpo %>% add_collection_member( collection="Condition", table="HPO_hp", condition=list(value="Phenotype", static=TRUE), source=list(value="HP", static=TRUE), identifier=list(value="id", static=FALSE) ) %>% add_collection_member( collection="Condition", table="HPO_diseases", condition=list(value="Disease", static=TRUE), source=list(value="db", static=FALSE), identifier=list(value="id", static=FALSE) ) ``` ### ClinVar {#clinvar} A subset of the [ClinVar][clinvar] database is provided within this package. ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence [@landrum_clinvar_2018]. This resource can be read as a `fileMDB` as shown above. However, in this case all the documenting information is included in the resource directory, making it easier to read as [explained above](#min-writing). ```{r} file_clinvar <- read_fileMDB( path=system.file("examples/ClinVar", package="TKCat") ) ``` ```{r} file_clinvar ``` ### CHEMBL {#chembl} Similarly, a self-documented subset of the [CHEMBL][chembl] database is also provided in the TKCat package. It can be read the same way. ```{r} file_chembl <- read_fileMDB( path=system.file("examples/CHEMBL", package="TKCat") ) ``` CHEMBL is a manually curated chemical database of bioactive molecules with drug-like properties [@mendez_chembl_2019]. ```{r} file_chembl ``` ## MDB implementations {#mdb-implementations} There are 3 main implementations of MDBs: - **fileMDB** objects keep the data in files and load them only when requested by the user. These implementation is the first one which is used when reading MDB as demonstrated in the examples above. - **memoMDB** objects have all the data loaded in memory. These objects are very easy to use but can take time to load and can use a lot of memory. - **chMDB** objects get the data from a [ClickHouse][clickhouse] database providing a catalog of MDBs as described in the [dedicated section](#chTKCat). The different implementations can be converted to each others using `as_fileMDB()`, `as_memoMDB()` and `as_chMDB()` functions. ```{r} memo_clinvar <- as_memoMDB(file_clinvar) object.size(file_clinvar) %>% print(units="Kb") object.size(memo_clinvar) %>% print(units="Kb") ``` A fourth implementation is **metaMDB** which combines several MDBs glued together with relational tables (see the [Merging with collections](#merging-with-collections) part). Most of the functions described below work with any MDB implementation, and a few functions are specific to each implementation. ## Exploring information General information can be retrieved (and potentialy updated) using the `db_info()` function. ```{r} db_info(file_clinvar) ``` As shown above the data model of an MDB can be retrieved and plot the following way. ```{r} plot(data_model(file_clinvar)) ``` Tables names can be listed with the `names()` function and potentially renamed with `names()<-` or `rename()` functions (the tables have been renamed here to improve the readability of the following examples). ```{r} names(file_clinvar) file_clinvar <- file_clinvar %>% set_names(sub("ClinVar_", "", names(.))) names(file_clinvar) ``` The different collection members of an MDBs are listed with the `collection_members()` function. ```{r} collection_members(file_clinvar) ``` The following functions are use to get the number of tables, the number of fields per table and the number of records. ```{r} length(file_clinvar) # Number of tables lengths(file_clinvar) # Number of fields per table count_records(file_clinvar) # Number of records per table ``` The `count_records()` function can take a lot of time when dealing with *fileMDB* objects if the data files are very large. In such case it could be more efficient to list data file size instead. ```{r} data_file_size(file_clinvar, hr=TRUE) ``` ## Pulling, subsetting and combining There are several possible ways to pull data tables from MDBs. The following lines return the same result displayed below (only once). ```{r, eval=FALSE} data_tables(file_clinvar, "traitNames")[[1]] file_clinvar[["traitNames"]] file_clinvar$"traitNames" file_clinvar %>% pull(traitNames) ``` ```{r, echo=FALSE} file_clinvar %>% pull(traitNames) ``` MDBs can also be subset and combined. The corresponding functions ensure that the data model is fulfilled by the data tables. ```{r} file_clinvar[1:3] if(igraph_available){ c(file_clinvar[1:3], file_hpo[c(1,5,7)]) %>% data_model() %>% auto_layout(force=TRUE) %>% plot() }else{ c(file_clinvar[1:3], file_hpo[c(1,5,7)]) %>% data_model() %>% plot() } ``` The function `c()` concatenates the provided MDB after checking that tables names are not duplicated. It does not integrate the data with any relational table. This can achieved by merging the MDBs as described in the [Merging with collections](#merging-with-collections) section. ## Filtering and joining An MDB can be filtered by filtering one or several tables based on field values. The filtering is propagated to other tables using the embedded data model. In the example below, the `file_clinvar` object is filtered in order to focus on a few genes with pathogenic variants. The table below compares the number of rows before ("ori") and after ("filt") filtering. ```{r} filtered_clinvar <- file_clinvar %>% filter( entrezNames = symbol %in% c("PIK3R2", "UGT1A8") ) %>% slice(ReferenceClinVarAssertion=grep( "pathogen", .$ReferenceClinVarAssertion$clinicalSignificance, ignore.case=TRUE )) left_join( dims(file_clinvar) %>% select(name, nrow), dims(filtered_clinvar) %>% select(name, nrow), by="name", suffix=c("_ori", "_filt") ) ``` The object returned by `filter()` or `slice` is a *memoMDB*: all the data are in memory. Tables can be easily joined to get diseases associated to the genes of interest in a single table as shown below. ```{r} gene_traits <- filtered_clinvar %>% join_mdb_tables( "entrezNames", "varEntrez", "variants", "rcvaVariant", "ReferenceClinVarAssertion", "rcvaTraits", "traits" ) gene_traits$entrezNames %>% select(symbol, name, variants.type, variants.name, traitType, traits.name) ``` ## Merging MDBs with collections {#merging-with-collections} Until now, we have seen how to use individual MDB by exploring general information about it, extracting tables, filtering and joining data. This part shows how to use **collections** to identify relationships between MDBs and to leverage these relationships to integrate them. Documenting collection members has been [described above](#min-coll-memb) and further information about collections implementation is provided in the [appendix](#collections). ### Collections and collection members As explained [above](#min-coll-memb), some databases refer to the same concepts and could be integrated accordingly. However they often use different vocabularies. For example, both [CHEMBL](#chembl) and [ClinVar](#clinvar) refer to biological entities (BE) for documenting drug targets or disease causal genes. CHEMBL refers to drug target in the *CHEMBL_component_sequence* table using mainly Uniprot peptide identifiers from different species. ```{r} file_chembl$CHEMBL_component_sequence ``` Whereas ClinVar refers to causal genes in the *entrezNames* table using human Entrez gene identifiers. ```{r} file_clinvar$entrezNames ``` Since peptides are coded by genes, there is a biological relationship between these two types of BE, and several tools exist to convert such BE identifiers from one scope to the other (e.g. [BED][bed] [@godard_bed:_2018], [mygene][mygene] [@wu2012], [biomaRt][biomart] [@kinsella2011]). TKCat provides mechanism to document these scopes in order to allow automatic conversions from and to any of them. Those concepts are called **Collections** in TKCat and they should be formally defined before being able to document any of their members. Two collection definitions are provided within the TKCat package and other can be imported with the `import_local_collection()` function. ```{r} list_local_collections() ``` Here are the definition of the BE collection members provided by the *CHEMBL_component_sequence* and the *entrezNames* tables. ```{r} collection_members(file_chembl, "BE") collection_members(file_clinvar, "BE") ``` The *Collection* column indicates the collection to which the table refers. The *cid* column indicates the version of the collection definition which should correspond to the `$id` of JSON schema. The *resource* column indicates the name of the resource and the *mid* column an identifier which is unique for each member of a collection in each resource. The *field* column indicates each part of the scope of collection. In the case of BE, 4 fields should be documented: - be: the type of BE (e.g. Gene or Peptide) - source: the source of the identifier (e.g. EntrezGene or Peptide) - organism: the organism to which the identifier refers (e.g Homo sapiens) - identifier: the identifier itself. Each of these fields can be *static* or not. `TRUE` means that the value of this field is the same for all the records and is provided in the *value* column. Whereas `FALSE` means that the value can be different for each record and is provided in the column the name of which is given in the *value* column. The *type* column is only used for the organism field in the case of the BE collection and can take 2 values: "Scientific name" or "NCBI taxon identifier". The definition of the pre-build BE collection members follows the terminology used in the [BED package][bed] [@godard_bed:_2018]. But it can be adapted according to the solution chosen for converting BE identifiers from one scope to another. Setting up the definition of such scope is done using the `add_collection_member()` function as shown above in the [minimal example](#min-coll-memb) and in the [Reading HPO example](#hpo). ### Shared collections and merging The aim of collections is to identify potential bridges between MDBs. The `get_shared_collection()` function is used to list all the collections shared by two MDBs. ```{r} get_shared_collections(filtered_clinvar, file_chembl) ``` In this example, there are 3 different ways to merge the two MDBs *filtered_clinvar* and *file_chembl*: - Based on conditions provided respectively in the *traits* and in the *CHEMBL_drug_indication* tables - Based on conditions provided respectively in the *traitsCref* and in the *CHEMBL_drug_indication* tables - Based on BE provided respectively in the *entrezNames* and in the *CHEMBL_component_sequence* tables The code below shows how to merge these two resources based on BE information. To achieve this task it relies on a function provided with TKCat along with BE collection definition (to get the function: `get_collection_mapper("BE")`). This function uses the [BED package][bed] [@godard_bed:_2018] and you need this package to be installed with a connection to BED database in order to run the code below. ```{r, message=FALSE} try(BED::connectToBed(a)) bedCheck <- try(BED::checkBedConn()) if(!inherits(bedCheck, "try-error") && bedCheck){ sel_coll <- get_shared_collections(file_clinvar, file_chembl) %>% filter(collection=="BE") filtered_cv_chembl <- merge( x=file_clinvar, y=file_chembl, by=sel_coll, dmAutoLayout=igraph_available ) } ``` The returned object is a **metaMDB** gathering the original MDBs and a relational table between members of the same collection as defined by the `by` parameter. Additional information about collection can be found below in the [appendix](#collections). ### Merging without collection If the *collection* column of the `by` parameter is `NA`, then the relational table is built by merging identical columns in table.x and table.y (No conversion occurs). For example, *file_hpo* and *file_clinvar* MDBs could be merged according to conditions provided in the *HPO_diseases* and the *traitCref* tables respectively. ```{r} get_shared_collections(file_hpo, file_clinvar) ``` These conditions could be converted using a function provided with TKCat (`get_collection_mapper("Condition")`) and which rely on the [DODO package][dodo] [@françois2020]. The two tables can also be simply concatenated without applying any conversion (loosing the advantage of such conversion obviously). ```{r} sel_coll <- get_shared_collections(file_hpo, file_clinvar) %>% filter(table.x=="HPO_diseases", table.y=="traitCref") %>% mutate(collection=NA) sel_coll ``` The `merge()` function gather the two *MDBs* in one *metaMDB* and create a association table based on the `by` argument. This association table ("HPO_diseases_traitCref") is displayed in yellow in the data model of the created *metaMDB* as shown below. ```{r} hpo_clinvar <- merge( file_hpo, file_clinvar, by=sel_coll, dmAutoLayout=igraph_available ) plot(data_model(hpo_clinvar)) hpo_clinvar$HPO_diseases_traitCref ``` # A centralized catalog of MDB in ClickHouse (chTKCat) {#chTKCat} ## Local TKCat MDB can be gathered in a *TKCat* (Tailored Knowledge Catalog) object. ```{r} k <- TKCat(file_hpo, file_clinvar) ``` Gathering MDBs in such a catalog facilitate their exploration and their preparation for potential integration. Several functions are available to achieve this goal. ```{r} list_MDBs(k) # list all the MDBs in a TKCat object get_MDB(k, "HPO") # get a specific MDBs from the catalog search_MDB_tables(k, "disease") # Search table about "disease" search_MDB_fields(k, "disease") # Search a field about "disease" collection_members(k) # Get collection members of the different MDBs c(k, TKCat(file_chembl)) # Merge 2 TKCat objects ``` The function `explore_MDBs()` launches a shiny interface to explore MDBs in a *TKCat* object. This exploration interface can be easily deployed using an *app.R* file with content similar to the one below. ```{r, eval=FALSE} library(TKCat) explore_MDBs(k, download=TRUE) ``` ![](explore_MDBs-local.png) In this interface the users can explore the resources available in the catalog. They can browse the data model of each of them with some sample data. They can also search for information provided in resources, tables or fields. Finally, if the parameter `download` is set to `TRUE`, the users will also be able to download the data: either each table individually or an archive of the whole MDB. ## chTKCat {#chtkcat} ```{r, echo=FALSE} ## The following line is to avoid building errors on CRAN knitr::opts_chunk$set(eval=Sys.getenv("USER") %in% c("pgodard")) ``` A *chTKCat* object is a catalog of MDB as a *TKCat* object described above but relying on a [ClickHouse][clickhouse] database. This part focuses on using and querying a *chTKCat* object. The installation and the initialization of a [ClickHouse][clickhouse] database ready for TKCat are described below in the [appendix](#ch-op). The connection to the ClickHouse TKCat database is achieved using the `chTKCat()` function. ```{r} k <- chTKCat( host="localhost", # default parameter port=9111L, # default parameter drv=ClickHouseHTTP::ClickHouseHTTP(), # default parameter user="default", # default parameter password="" # if not provided the # password is requested interactively ) ``` By default, this function connects anonymously ("default" user without password) to the database, using the [HTTP interface](https://clickhouse.com/docs/en/interfaces/http/) of ClickHouse thanks to the [ClickHouseHTTP][chhttp] driver. If the database is configured appropriately (see [appendix](#ch-op)), connection can be achieved through HTTPS with or without SSL peer verification (see the manual of `ClickHouseHTTP::\`ClickHouseHTTPDriver-class\`` for further information). Also, the `RClickhouse::clickhouse()` driver from the [RClickhouse][rclickhouse] package can be used (`drv` parameter of the `chTKCat()` function) to leverage the native [TCP interface](https://clickhouse.com/docs/en/interfaces/tcp/) of ClickHouse which has the strong advantage of having less overhead. But TLS wrapping is not supported yet by the RClickhouse package. Once connected, this *chTKCat* object can be used as a *TKCat* object. ```{r} list_MDBs(k) # get a specific MDBs from the catalog search_MDB_tables(k, "disease") # Search table about "disease" search_MDB_fields(k, "disease") # Search a field about "disease" collection_members(k) ``` ```{r, eval=FALSE} explore_MDBs(k) ``` ## Pushing an MDB in a chTKCat instance Any `MDB` object can be imported in a TKCat ClickHouse instance as following: ```{r, eval=FALSE} kw <- chTKCat(host="localhost", port=9111L, user="pgodard") create_chMDB(kw, "HPO", public=TRUE) ch_hpo <- as_chMDB(file_hpo, kw) ``` It is then accessible to anyone with relevant permissions on the Clickhouse database. Pushing data in a ClickHouse database works only if the user is allowed to write in the database. ## Specific operations on chMDB objects The function `get_MDB()` returns a *chMDB* object that can be used as any *MDB* object. The data are located in the ClickHouse database and pulled on request. ```{r} ch_hpo <- get_MDB(k, "HPO") ``` To avoid pulling a whole table from ClickHouse (which can take time if the table is big), SQL queries can be made on the *chMDB* object as shown below. ```{r, echo=TRUE, eval=FALSE} get_query( ch_hpo, query="SELECT * from HPO_diseases WHERE lower(label) LIKE '%epilep%'" ) ``` ```{r, echo=FALSE} get_query( ch_hpo, query=sprintf( "SELECT * from %s WHERE lower(label) LIKE '%s'", ifelse( "HPO_diseases" %in% names(ch_hpo), "HPO_diseases", "Diseases" ), "%epilep%" ) ) ``` ```{r, echo=FALSE} ## The following line is to avoid building errors on CRAN knitr::opts_chunk$set(eval=TRUE) ``` # Defining and using Requirements for Knowledge Management (KMR) Beside the relational model, no additional constraints are applied to an MDB. This allows for high flexibility in the data that can be managed. However, in some cases, it could be useful to add further constraints to ensure that the data is compatible with specific analysis or integration workflows. In TKCat, this feature is supported by KMR (Knowledge Management Requirements). A KMR object is meant to be shared and centrally managed. MDBs intended to meet these requirements must contain technical tables referring to the corresponding KMR. When grouped in the same TKCat catalog, KMRs and MDBs form a coherent corpus of knowledge that can be leveraged consistently by KMR-tailored functions. This set of features is described in the vignette [Defining and using Requirements for Knowledge Management (KMR) in TKCat](TKCat-KMR-POK.html). # Appendices ## chTKCat operations {#ch-op} ### Instantiating the ClickHouse database #### Install ClickHouse, initialize and configure the TKCat instance The ClickHouse docker container supporting TKCat, its initialization and its configuration procedures are implemented here: [S01-install-and-init.R](https://github.com/patzaw/TKCat/blob/master/ClickHouse/S01-install-and-init.R). This script should be adapted according to requirements and needs. Specific attention should be paid on available ports: TCP native port (but not TLS wrapping yet) is supported by the [RClickhouse][rclickhouse] R package whereas HTTP and HTTP ports are supported by the [ClickHouseHTTP][chhttp] R package. The data are stored in the `TKCAT_HOME` folder. #### Cleaning and removing a TKCat instance When no longer needed, stoping and removing the docker container can be achieved as exemplified below ```{sh, eval=FALSE} # In shell docker stop tkcat_test docker rm tkcat_test docker volume prune -f # Remove the folder with all the data: `$TKCAT_HOME`.` sudo rm -rf ~/Documents/Projects/TKCat_Test ``` ### User management User management requires admin rights on the database. #### Creation {#ch-u-create} ```{r, eval=FALSE} k <- chTKCat(user="pgodard") create_chTKCat_user( k, login="lfrancois", contact=NA, admin=FALSE, provider=TRUE ) ``` The function will require to setup a password for the new user. The admin parameter indicates if the new user have admin right on the whole chTKCat instance (default: FALSE). The provider parameter indicates if the new user can create and populate new databases whithin the chTKCat instance (default: FALSE). #### Update ```{r, eval=FALSE} k <- chTKCat(user="pgodard") change_chTKCat_password(k, "lfrancois") update_chTKCat_user(k, contact="email", admin=FALSE) ``` A shiny application can be launched for updating user settings: ```{r, eval=FALSE} manage_chTKCat_users(k) ``` If this application is deployed, it can be made directly accessible from the `explore_MDBs()` Shiny application by providing the URL as the `userManager` parameter. #### Drop ```{r, eval=FALSE} drop_chTKCat_user(k, login="lfrancois") ``` ### chMDB management #### chMDB Creation Before MDB data can be uploaded, the database should be created. This operation can only be achieved by data providers (see [above](#ch-u-create)). ```{r, eval=FALSE} create_chMDB(k, "CHEMBL", public=FALSE) ``` By default chMDB are not public. It can be changed through the `public` parameter when creating the chMDB or by using the `set_chMDB_access()` function afterward. ```{r, eval=FALSE} set_chMDB_access(k, "CHEMBL", public=TRUE) ``` Then, users having access to the chMDB can be identified with or without admin rights on the chMDB. Admin rights allow the user to update the chMDB data. ```{r, eval=FALSE} add_chMDB_user(k, "CHEMBL", "lfrancois", admin=TRUE) # remove_chMDB_user(k, "CHEMBL", "lfrancois") list_chMDB_users(k, "CHEMBL") ``` #### Populating chMDB Each chMDB can be populated individualy using the `as_chMDB()` function. The code chunk below shows how to scan a directory for all *fileMDB* it contains. The `as_memoMDB()` function load all the data in memory and checks that all the model constraints are fulfilled (this step is optional). When `overwrite` parameter of the `as_chMDB()` function is set to FALSE (default), the potential existing version is archived before being updated. When `overwrite` is set to TRUE, the potential existing version is overwritten without being archived. ```{r, eval=FALSE} lc <- scan_fileMDBs("fileMDB_directory") ## The commented line below allows the exploration of the data models in lc. # explore_MDBs(lc) for(r in toFeed){ message(r) lr <- as_memoMDB(lc[[r]]) cr <- as_chMDB(lr, k, overwrite=FALSE) } ``` #### Deleting a chMDB Any admin user of a chMDB can delete the corresponding data. ```{r, eval=FALSE} empty_chMDB(k, "CHEMBL") ``` But only a system admin can drop the chMDB from the ClickHouse database. ```{r, eval=FALSE} drop_chMDB(k, "CHEMBL") ``` ### Collection management Details about collections are provided in the [following appendix](#collections). Collections needs to be added to a chTKCat instance in order to support collection members of the different chMDB. They can be taken from the TKCat package environment, from a JSON file or directly from a JSON text variable. Additional functions are available to list and remove chTKCat collections. ```{r, eval=FALSE} add_chTKCat_collection(k, "BE") list_chTKCat_collections(k) remove_chTKCat_collection(k, "BE") ``` ### Implementation #### Data models ##### Default database The default database stores information about chTKCat instance, users and user access. ```{r, echo=FALSE} plot(TKCat:::DEFAULT_DATA_MODEL) ``` ##### Modeled databases Modeled databases (MDB) are stored in dedicated database in chTKCat. Their data model is provided in dedicated tables described below. ```{r, echo=FALSE} plot(TKCat:::CHMDB_DATA_MODEL) ``` ## TKCat collections {#collections} Some MDBs refer to the same concepts and can be integrated accordingly. However they often use different vocabularies or scopes. Collections are used to identify such concepts and to define a way to document formally the scope used by the different members of these collections. Thanks to this formal description, tools can be used to automatically combine MDBs referring to the same collection but using different scopes, as shown [above](#merging-with-collections). This appendix describes how to create TKCat Collections, document collection members and create functions to support the merging of MDBs. ### Creating a collection A collection is defined by a JSON document. This document should fulfill the requirements defined by the [Collection-Schema.json](https://github.com/patzaw/TKCat/blob/master/inst/Collections/Collection-Schema.json). Two collections are available by default in the TKCat package. ```{r} list_local_collections() ``` Here is how the *BE* collection is defined. ```{r, eval=FALSE} get_local_collection("BE") ``` ```{r, echo=FALSE, results='asis'} get_local_collection("BE") %>% paste('```json', ., '```', sep="\n") %>% cat() ``` A collection should refer to the `"TKCat_collections_1.0"` **\$schema**. It should then have the following properties: - **\$id**: the identifier of the collection - **title**: the title of the collection - **type**: always `object` - **description**: a short description of the collection - **properties**: the properties that should be provided by collection members. In this case: - **\$schema**: should be the *\$id* of the collection - **\$id**: the identifier of the collection member: a string - **collection**: should be "BE" - **resource**: the name of the resource having collection members: a string - **tables**: an array of tables corresponding to collection members. Each item being a table with the following features: - **name**: the name of the table - **fields**: the required fields - **be**: if **static** is true then **value** correspond to the be value valid for all the records. If not **value** correspond to the table column with the be value for each record. - **source**: if **static** is true then **value** correspond to the source value valid for all the records. If not **value** correspond to the table column with the source value for each record. - **organism**: if **static** is true then **value** correspond to the organism value valid for all the records. If not **value** correspond to the table column with the organism value for each record. **type** indicate how organisms are identified: `"Scientific name"` or `"NCBI taxon identifier"`. The main specifications defined in a JSON document can be simply displayed in R session by calling the `show_collection_def()` function. ```{r} get_local_collection("BE") %>% show_collection_def() ``` ### Documenting collection members Documenting collection members of an *MDB* can be done by using the `add_collection_member()` function (as [formerly described](#min-coll-memb)), or by writing a JSON file like the following one which correspond to BE members of the CHEMBL MDB. ```{r, eval=FALSE} system.file( "examples/CHEMBL/model/Collections/BE-CHEMBL_BE_1.0.json", package="TKCat" ) %>% readLines() %>% paste(collapse="\n") ``` ```{r, echo=FALSE, results='asis'} system.file( "examples/CHEMBL/model/Collections/BE-CHEMBL_BE_1.0.json", package="TKCat" ) %>% readLines() %>% paste(collapse="\n") %>% paste('```json', ., '```', sep="\n") %>% cat() ``` The identification of collection members should fulfill the requirements defined by the collection JSON document, and therefore pass the following validation. ```{r} jsonvalidate::json_validate( json=system.file( "examples/CHEMBL/model/Collections/BE-CHEMBL_BE_1.0.json", package="TKCat" ), schema=get_local_collection("BE"), engine="ajv" ) ``` This validation is done automatically when reading a *fileMDB* object or when setting collection members with the `add_collection_member()` function. ### Collection mapper functions The `merge.MDB()` and the `map_collection_members()` functions rely on functions to map members of the same collection. When recorded (using the `import_collection_mapper()` function), these functions can be automatically identified by TKCat, otherwise or according to user needs, these functions could be provided using the `funs` (for `merge.MDB()`) or the `fun` (for `map_collection_members()`) parameters. Two mappers are pre-recorded in TKCat, one for the *BE* collection and one for the *Condition* collection. They can be retrieved with the `get_collection_mapper()` function. ```{r, eval=FALSE} get_collection_mapper("BE") ``` ```{r, echo=FALSE, results='asis'} get_collection_mapper("BE") %>% format() %>% paste(collapse="\n") %>% paste('```r', ., '```', sep="\n") %>% cat() ``` A mapper function must have at least an x and a y parameters. Each of them should be a data.frame with all the field values corresponding to the fields defined in the collection. Additional parameters can be defined and will be forwarded using `...`. This function should return a data frame with all the fields values followed by "\_x" and "\_y" suffix accordingly. ## Remarks about supported data format and data types Most of the data format and data types supported by the ReDaMoR and the TKCat packages are taken into account in the examples described in the main sections of this vignette. Nevertheless, one specific data format (matrix) and one specific data type (base64) are not exemplified. This appendix provides a short description of these format and type. ### Matrices of values ReDaMoR and TKCat support data frame and matrix objectq. Data frame is the most used data format from far. However, matrices of values can be useful in some use cases. The example below shows how such data format are modeled in ReDaMoR as a 3 columns table: one of type "row" corresponding to the row names of the matrix, one of type "column" corresponding to the column names of the matrix, and one of any type (excepted "row", "column", or "base64"). ```{r} d <- matrix( rnorm(40), nrow=10, dimnames=list( paste0("g", 1:10), paste0("s", 1:4) ) ) m <- ReDaMoR::df_to_model(d) %>% ReDaMoR::rename_field("d", "row", "gene") %>% update_field("d", "gene", comment="Gene identifier") %>% ReDaMoR::rename_field("d", "column", "sample") %>% update_field("d", "sample", comment="Sample identifier") %>% ReDaMoR::rename_field("d", "value", "expression") %>% update_field( "d", "expression", nullable=FALSE, comment="Gene expression value" ) md <- memoMDB(list(d=d), m, list(name="Matrix example")) plot(data_model(md)) ``` ### Documents stored as base64 values Whole documents can be stored in MDB as "base64" character values. The example below shows how a document can be put in a table and the corresponding data model. ```{r} ch_config_files <- tibble( name=c("config.xml", "users.xml"), file=c( base64enc::base64encode( system.file("ClickHouse/config.xml", package="TKCat") ), base64enc::base64encode( system.file("ClickHouse/users.xml", package="TKCat") ) ) ) m <- df_to_model(ch_config_files) %>% update_field( "ch_config_files", "name", type="base64", comment="Name of the config file", nullable=FALSE, unique=TRUE ) %>% update_field( "ch_config_files", "file", type="base64", comment="Config file in base64 format", nullable=FALSE ) md <- memoMDB( list(ch_config_files=ch_config_files), m, list(name="base64 example") ) plot(data_model(md)) ``` # References {-}