RT Journal Article
SR Electronic
T1 TRIBES: A user-friendly pipeline for relatedness detection and disease gene discovery
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 686253
DO 10.1101/686253
A1 Twine, Natalie A.
A1 Szul, Piotr
A1 Henden, Lyndal
A1 McCann, Emily P.
A1 Blair, Ian P.
A1 Williams, Kelly L.
A1 Bauer, Denis C.
YR 2019
UL http://biorxiv.org/content/early/2019/07/02/686253.abstract
AB Summary TRIBES 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.Availability TRIBES is freely available on GitHub: https://github.com/aehrc/TRIBES/Contact natalie.twine{at}csiro.auSupplementary information XXXX