Additional file 1: of A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

Figure S1. Detailed sample description displayed in the internal GWAS Catalog curation interface. Figure S2. a Structured ancestry and recruitment information displayed in the internal GWAS Catalog curation interface. b GWAS Catalog ancestry and recruitment data entry page of internal curation interface. Supplementary Box 1. Genomic methods of ancestry determination. Figure S3. Distribution of studies by ancestry category focused on Catalog traits with highest number of studies in the Catalog. Figure S4. Methods of ancestry ascertainment used in a subset of publications included in the GWAS Catalog. Supplementary References. (DOCX 893 kb

Additional file 3: of A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

Table S2. GWAS Catalog detailed descriptions with ancestry category assignments. (XLSX 77 kb

Additional file 5: of A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

Table S4. HapMap Project and 1000 Genomes Project populations with assigned ancestry category. (XLSX 27 kb

Additional file 4: of A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

Table S3. Specific examples to illustrate the application of the framework to the GWAS Catalog. (XLSX 70 kb

Additional file 2: of A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

Table S1. GWAS Catalog countries of recruitment for which no ancestry information was provided. (XLSX 77 kb

Record-level versioning and release-level versioning.

<p>Record-level versioning and release-level versioning.</p

Anatomy of a web-based identifier.

<p>An example of an exemplary unique resource identifier (URI) is below; it is comprised of American Standard Code for Information Interchange (ASCII) characters and follows a pattern that starts with a fixed set of characters (URI pattern). That URI pattern is followed by a local identifier (local ID)—an identifier which, by itself, is only guaranteed to be locally unique within the database or source. A local ID is sometimes referred to as an “accession.” Note this figure illustrates the simplest representation; nuances regarding versioning are covered in Lesson 6 and <a href="http://www.plosbiology.org/article/info:doi/10.1371/journal.pbio.2001414#pbio.2001414.g005" target="_blank">Fig 5</a>.</p

Desirable characteristics for database identifiers in the life sciences.

<p>Desirable characteristics for database identifiers in the life sciences.</p

Contributions and roles related to content as they correspond to identifier creation versus identifier reuse.

<p>The decision about whether to create a new identifier or reuse an existing one depends on the role you play in the creation, editing, and republishing of content; for certain roles (and when several roles apply) that decision is a judgement call. Asterisks convey cases in which the best course of action is often to correct/improve the original record in collaboration with the original source; the guidance about identifier creation versus reuse is meant to apply only when such collaboration is not practicable (and an alternate record is created). It is common that a given actor may have multiple roles along this spectrum; for instance, a given record in monarchinitiative.org may reflect a combination of (a) corrections Monarch staff made in collaboration with the original data source, (b) post-ingest curation by Monarch staff, (c) expanded content integrated from multiple sources.</p

A summary of the 10 recommendations and their direct or indirect impact on different kinds of identifier roles.

<p>A summary of the 10 recommendations and their direct or indirect impact on different kinds of identifier roles.</p