Autozygome and high throughput confirmation of disease genes candidacy

2018116 citationsJournal Articlehybrid Open Access

Authors

Sateesh Maddirevula · King Faisal Specialist Hospital & Research Centre

Fatema Alzahrani · King Faisal Specialist Hospital & Research Centre

Mohammed Al‐Owain · Alfaisal University

Mohammad A. Al Muhaizea · King Faisal Specialist Hospital & Research Centre

Husam Kayyali

Amal Alhashem · Riyadh Armed Forces Hospital

Zuhair Rahbeeni · King Faisal Specialist Hospital & Research Centre

Abstract

Our results should facilitate the timely relabeling of these candidate disease genes in relevant databases to improve the yield of clinical genomic sequencing.

Topics & Keywords

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Genetics in Medicine

Volume 21, Issue 3, pp. 736-742

DOI: 10.1038/s41436-018-0138-x

Field-Weighted Citation Impact: 11.39