TRIBES: A user-friendly pipeline for relatedness detection and disease gene discovery

Abstract

AbstractSummaryTRIBES is a user-friendly pipeline for relatedness detection in genomic data. TRIBES is the first tool which is both accurate up to 7th degree relatives (e.g. third cousins) and combines essential data processing steps into a single user-friendly pipeline. Furthermore, using a proof-of-principle cohort comprising amyotrophic lateral sclerosis cases with known relationship structures and a known causal mutation in SOD1, we demonstrated that TRIBES can successfully uncover disease susceptibility loci. TRIBES has multiple applications in addition to disease gene mapping, including sample quality control in genome wide association studies and avoiding consanguineous unions in family planning.AvailabilityTRIBES is freely available on GitHub: https://github.com/aehrc/TRIBES/Contactnatalie.twine@csiro.auSupplementary informationXXXX