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MEIs in SplitVariants #649

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epiercehoffman opened this issue Feb 27, 2024 · 2 comments
Closed

MEIs in SplitVariants #649

epiercehoffman opened this issue Feb 27, 2024 · 2 comments
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@epiercehoffman
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svtk vcf2bed uses the ALT field to produce the svtype column in the output BED file. This means that the svtype column includes BND alt alleles and values like INS:ME for MEIs. However, the current and previous SplitVariants tasks in GenotypeBatch match exactly on the string "INS" when creating insertion-specific BED files, so the MEIs get grouped with BCAs instead. We should evaluate the impact of this on genotyping and whether MEIs should be grouped with other INS events instead.

@jingydz
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jingydz commented Mar 15, 2024

It appears that the file named 'svtypes.txt' can be defined by yourself.

@kirtanav98 kirtanav98 self-assigned this May 30, 2024
@mwalker174 mwalker174 added the bug Something isn't working label Jun 12, 2024
@epiercehoffman
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Addressed in #687

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