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Handle Amino Acid Variants During Mapping #319

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bencap opened this issue Oct 1, 2024 · 3 comments
Open

Handle Amino Acid Variants During Mapping #319

bencap opened this issue Oct 1, 2024 · 3 comments
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app: mapper Task implementation touches the mapper app: worker Task implementation touches the worker type: enhancement Enhancement to an existing feature workstream: pillar Task relates to pillar project

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@bencap
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bencap commented Oct 1, 2024

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@bencap bencap added the type: enhancement Enhancement to an existing feature label Oct 1, 2024
@bencap bencap added this to the Pillar Project milestone Oct 1, 2024
@sallybg
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sallybg commented Oct 1, 2024

For score sets where HGVS variant strings are provided only at the protein level, provide all possible genomic-level changes associated with the amino acid change described by the HGVS protein string. This is necessary for the IGVF pillar project. We may choose to generate these as VRS objects through the mapper, or we could pass the protein-level mapped VRS object to another data source such as ClinVar to calculate the possible nucleic acid changes for us.

@sallybg
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sallybg commented Oct 1, 2024

We'll also want to think about how to display these possible genomic variants (@afrubin has suggested using Cat-VRS), and whether we want to limit this feature to pillar project score sets. It will probably be important to distinguish between these possible genomic variants vs. actual genomic variants provided by users as n. or c. HGVS strings.

@bencap bencap added workstream: pillar Task relates to pillar project app: mapper Task implementation touches the mapper app: worker Task implementation touches the worker labels Oct 1, 2024
@bencap
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bencap commented Oct 7, 2024

On hold until we can evaluate Cat-VRS as a potential solution (https://github.com/ga4gh/cat-vrs)

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Labels
app: mapper Task implementation touches the mapper app: worker Task implementation touches the worker type: enhancement Enhancement to an existing feature workstream: pillar Task relates to pillar project
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