Ontology highlight
ABSTRACT:
SUBMITTER: Schiff ER
PROVIDER: S-EPMC6153494 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Schiff E R ER Frampton M M Ben-Yosef N N Avila B E BE Semplici F F Pontikos N N Bloom S L SL McCartney S A SA Vega R R Lovat L B LB Wood E E Hart A A Israeli E E Crespi D D Furman M A MA Mann S S Murray C D CD Segal A W AW Levine A P AP
Human genetics 20180822 9
Rare variants are thought to contribute to the genetics of inflammatory bowel disease (IBD), which is more common amongst the Ashkenazi Jewish (AJ) population. A family-based approach using exome sequencing of AJ individuals with IBD was employed with a view to identify novel rare genetic variants for this disease. Exome sequencing was performed on 960 Jewish individuals including 513 from 199 multiplex families with up to eight cases. Rare, damaging variants in loci prioritized by linkage analy ...[more]