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  • Detecting trisomy 21 from exome data

    Hello,

    I am trying to detect trisomy 21 from exome data.

    I have tried:
    200 exome bam files -> samtools idxstats and get a distribution for chr 21.

    I have divided chr21 reads / (total reads - x - y)
    I got the same for all chr 9 and tried to get a ratio between 21 and 9 and still couldnt get a thing.

    I am now trying depth of coverage from gatk and i ll see if i can get sth from there.

    What can i do more, better?

    Best regards,

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