Question: Detect Trisomy 13 from exome data
gravatar for hafiz.talhamalik
5 weeks ago by
hafiz.talhamalik240 wrote:

Is their any method/tool to detect Trisomy 13 from exome sequencing data ?? I did the alignment and performed cpnventional vcf analysis using GATk. But I m not sure how to look for information related to Trisomy 13. any would be appreciable.

tools ngs exome • 98 views
ADD COMMENTlink modified 27 days ago by Biostar ♦♦ 20 • written 5 weeks ago by hafiz.talhamalik240

You may detect it in 2 ways: 1) generate BAF file from SNVs and check if there are not 3 tracks (around 0, 0.5, 1) but 4 tracks (0, 0.33, 0.66, 1), 2) using coverage analysis.

Calculate the average coverage of your chromosomes and check if the coverage of chr13 is 1.5 of the "normal" one.

ADD REPLYlink modified 27 days ago • written 27 days ago by German.M.Demidov1.8k
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