phased and unphased genotype results differ ?
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8.2 years ago
CrazyB ▴ 280

I was plowing through two sets of VCF outputs - one with genotype phased and the other unphased. To my surprise, a few genotype data seem different. Any idea??

CHR POS RS REF ALT SAMPLE1 SAMPLE2 SAMPLE3
PHASED
chr11 118956652 . C A 0|0 1|0 0|1
chr11 118956655 . A AG 1|0 0|0 1|0
chr11 118956656 . A ACACCCCGGCTGCAGCTGCCGAGGGCCTCACTCACCTTC 0|0 1|0 0|1

UNPHASED
chr11 118956652 . C A 0/0 0/0 0/1
chr11 118956655 . A AG 0/0 0/0 0/1
chr11 118956656 . A ACACCCCGGCTGCAGCTGCCGAGGGCCTCACTCACCTTC 0/0 0/0 0/1
vcf phased genotype • 2.2k views
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you didn't describe the tool and the options used ....

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sorry - not sure what I should do about my prior questions ... e.g. "validating" my questions ?? Please advise (and will do it). Thanks.

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When you ask a question, you'll see a grayed-out checkbox with a "Accept!" mouseover on all answers given to your question. When you accept an answer, the poster get reputation points, but more important, people with problems similar to yours will easily find a solution which at least worked before.

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@ Pierre, to clarify, should I check "accept" out of courtesy for all responses or only when I believe the provided answer helps with the question?

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8.2 years ago

Phasing software can change genotypes. This usually happens for variant with low genotype likelihoods.

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