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Improve functional consequence reporting for structural variants #366

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apriltuesday opened this issue Feb 24, 2023 · 0 comments
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complex events Roadmap item 2 (original issue #205) functional consequences

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@apriltuesday
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We currently report consequences for structural variants as we do for SNPs/indels - i.e. reporting the most severe consequence for all overlapping genes - which does not always paint an accurate picture of the actual effects. See here for an example. We should evaluate and adjust our methodology, in conjunction with Ensembl if necessary.

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Labels
complex events Roadmap item 2 (original issue #205) functional consequences
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