Detect Trisomy 13 from exome data

Question

[hafiz.talhamalik]

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.

[German.M.Demidov]

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.