Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

• Published in: American journal of human genetics Vol. 103; no. 4; pp. 522 - 534
• Main Authors: Guo, Michael H., Plummer, Lacey, Chan, Yee-Ming, Hirschhorn, Joel N., Lippincott, Margaret F.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 04.10.2018; Elsevier
• Subjects: gene-based burden analysis; hypogonadotropic hypogonadism; TRAPD; hypogonadotropic hypogonadism; gene-based burden analysis; TRAPD

The genetic causes of many Mendelian disorders remain undefined. Factors such as lack of large multiplex families, locus heterogeneity, and incomplete penetrance hamper these efforts for many disorders. Previous work suggests that gene-based burden testing—where the aggregate burden of rare, protein...