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Small variant and SV phasing #18

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Madelinehazel opened this issue May 7, 2024 · 0 comments
Open

Small variant and SV phasing #18

Madelinehazel opened this issue May 7, 2024 · 0 comments

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@Madelinehazel
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Add annotation to indicate if there are rare SVs in the same gene as a rare small variant and what their phase is, and vice versa. Ex:

Position Ref Alt Gene Phased_GT Phase_set Second_hit Phase
chr1:100877893 T C EXTL2 0|1 phase set ID 1 Variant.ID.1; Variant.ID.2; Variant.ID.3 cis;trans;unphased
chr1:1014228 G A ISG15 1|0 phase set ID 2 . .

Only consider rare ( less than 5% in CMH) variants.

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