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  • seraphin
    Junior Member
    • Feb 2013
    • 4

    #1

    need some help to understand the VCF file

    Need some help to understand VCF files (yes, I've read the info from 1kgenome and have some "basic" understanding of them).

    In the genotype result, for example, I have the following SNP identified.

    chr1 860461 G A 98 PASS GT: CQ: DP 1/1:98:4 ./.:98:5 ./.:98:5 0/0:.:.

    The genotype for the 4 individuals are

    AA, ?, ?, GG

    My questions are (a) why with read depth (DP) = 4 for individual #1, the genotype is "readable" and considered AA, whereas for individual #2, the read depth is 5, but the genotype cannot be called and hence ./. (b) why for individual #4, nothing is readable but still there is this predicted GG genotype given. (c) how did this SNP end up being given a "PASS" by the filter? To me, all 4 individuals have poor read at this position.

    Any help? Great many thanks
    Last edited by seraphin; 06-05-2013, 02:46 PM.

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