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  • Sample QC: Samples were excluded from the analysis based on the following criteria: 1) Samples with a mean depth <30x or <70% of exon targets covered at <20x were excluded from further analysis; 2) samples with >3 standard deviations from mean in number of alternate alleles, number of heterozygotes, transition/transversion ratio, number of singletons and call rate as calculated with the PLINK/SEQ i-stats tool (https://atgu.mgh.harvard.edu/plinkseq/); 3) call rate <97%; 4) ethnically unmatched samples as identified by multi-dimensional scaling analysis with PLINK version 1.9 [29]; 5) PI_HAT score>0.25 as calculated by PLINK version 1.9 to exclude related individuals.
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