Development Roadmap

Development Roadmap

This section links to material on the changes and new functionality planned for BRCA Exchange development.

This page is updated quarterly. To get the most recent roadmap, please see our Waffleboard.

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Big Picture

• Here are notes from a brainstorming meeting on upcoming development priorities.

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Portal refinements

• Restructure the help pages. See the Confluence page (Amy).

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Collecting and presenting variant-level evidence

Splicing and prediction of truncation

• Team Splicing is gathering the ingredients for computing the splicing prior, including predicting truncating variants (Tyler, Melissa M, Luis).

Gathering and presenting allele frequency data

• Adding subpopulation data from ExAC:

  • The BRCA Exchange output data now includes allele counts, allele numbers, homozygous counts and allele frequencies for the seven ExAC subpopulations: AFR, AMR, EAS, FIN, NFE, OTH, SAS.

  • Prototype allele frequency graphs are under development (see the developer sandbox (Joe)

• Incorporating data from gnomAD: Awaiting the release of "gnomAD minus TCGA" (Sam)

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Collecting case-level evidence

• See the draft specification of forms of evidence by analysis type.

Analysis Types

• Co-occurrence

  • See the draft specification for the data needed for co-occurrence (Melissa).

• Summary family history

  • See the UCSC IRB exemption for the ENIGMA pilot

Data collection issues

• Parsing text data from images of reports

  • See work underway on researching methods for optical character recognition and handwriting analysis (Chloe)

• Managing redundancy: see work underway on one-way cryptographic hashes (Johnnie).