Development Roadmap

This section links to material on the changes and new functionality planned or underway 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.

• The UCSC and ETH Zurch BRCA Exchange teams held a joint meeting in Santa Cruz on Aug 21-23, 2017. Here are some planning notes, the meeting agenda, and meeting report with slides.

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Portal Development

• Mobile app (Faisal)

• Reorganize and update the help pages with a focus of targeting genetic counselors for the Expert-Reviewed portal, and variant curators for the All Public Data portal. See the links on the Confluence page (Amy)

• Literature search: currently refining the method for production (Audrey, Chloe).

• BRCA Exchange / MuPIT integration (Melissa)

• Implement BRCA Exchange News (see the wireframes). (Open? To be done?)

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Collecting and presenting variant-level evidence

Estimating priors

• Chloe is currently driving calculations of the priors, based around pseudocode here. Previous documentation is available for the method and the data, and previous versions of the pseudocode are here.

Transcript visualization

• this document shows wireframes for splicing data visualization. Joe is in the process of implementing this visualization, as seen on his sandbox.

Gathering and presenting allele frequency data

• 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.

• We are awaiting status of an application for AmbryShare data.

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

  • OCR methods (Chloe).
  • We have some scans of blank test order forms here

• Managing redundancy: one-way cryptographic hashes (Johnnie)