Detect Trisomy 13 from exome data
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 help would be appreciable.
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hafiz.talhamalik
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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.