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Masking repetitive regions #4

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mbhall88 opened this issue Jan 24, 2024 · 2 comments
Closed

Masking repetitive regions #4

mbhall88 opened this issue Jan 24, 2024 · 2 comments

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@mbhall88
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Do we want to mask repetitive regions of the genome - both from the truthset and the callset?

My (naive) way of approaching this would be to just align the genome to itself and mask any position with a depth >1.

@rrwick
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rrwick commented Jan 24, 2024

I vote no - don't mask anything. Masking repeats is for short reads 😄

@mbhall88
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Yeah, agreed. This is probably a good test for the variant callers. As was mentioned in this review, variant callers should have strategies for dealing with reads that map to repetitive regions. I think this will be a good test.

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