AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

Abstract Homozygosity mapping is a powerful method for identifying mutations in patients with recessive conditions, especially consanguineous families or isolated populations. Historically, it has been used conjunction genotypes from highly polymorphic markers, such as DNA microsatellites common SNPs. Traditional software performs rather poorly data Whole Exome Sequencing (WES) and Genome (WGS), which are now extensively medical genetics. We develop AutoMap, tool that both web-based downloadable, to allow performing homozygosity directly on VCF (Variant Call Format) calls WES WGS projects. Following training step 26 validation procedure matched cohort, our shows higher overall performances when compared eight existing tools. Most importantly, tested real cases negative molecular diagnosis an internal set, AutoMap detects three gene-disease multiple variant-disease associations were previously unrecognized, projecting clear benefits research activities