Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

(The American Journal of Human Genetics 104, 1182–1201; June 6, 2019) The online version of the above article has been updated on October 3, 2019 with the following changes: (1) Dr. Malak Althagafi’s name has been removed from the author list upon her request and (2) Tables 1–4 and S1–S11 and related text have been resupplied with new patient identifiers. Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous PopulationMonies et al.The American Journal of Human GeneticsMay 23, 2019In BriefWe report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we propose to be recessive, disease-related candidates. We report additional mutational events in 64 previously reported candidates (40 recessive), and these events support their candidacy. We report recessive forms of genes that were previously associated only with dominant disorders and that have phenotypes ranging from consistent with to conspicuously distinct from the known dominant phenotypes. Full-Text PDF Open Archive