WES
Capture was performed on IDT xGen capture kit followed by Illumina DNA sequencing (HiSeq 4000) using  WES protocol. Paired-end sequence reads (101 bases) were converted to FASTQ format and were aligned to the reference human genome (hg19). Genetic variants were called by GATK, and they were annotated by ANNOVAR and a custom pipeline that includes population allele frequencies, OMIM and ClinVar citations, and numerous in silico attributes.The samples were sequenced to a mean depth of at least 110x independent reads per targeted base, with at least 20x independent reads in 98% of targeted bases, or 50x in 90% of targeted bases. We filtered exonic or splice-site rare variants (MAF  0.01 from publicly available population databases e.g., 1000 Genomes, NHLBI-EVS, gnomAD, and our institutional database) that exhibited high quality sequence reads.
Family 40