Article
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
PLoS genetics - 1 Oct 2021
Biswas Pooja, Villanueva Adda L, Soto-Hermida Angel, Duncan Jacque L, Matsui Hiroko, Borooah Shyamanga, Kurmanov Berzhan, Richard Gabriele, Khan Shahid Y, Branham Kari, Huang Bonnie, Suk John, Bakall Benjamin, Goldberg Jeffrey L, Gabriel Luis, Khan Naheed W, Raghavendra Pongali B, Zhou Jason, Devalaraja Sindhu, Huynh Andrew, Alapati Akhila, Zawaydeh Qais, Weleber Richard G, Heckenlively John R, Hejtmancik J Fielding, Riazuddin Sheikh, Sieving Paul A, Riazuddin S Amer, Frazer Kelly A, Ayyagari Radha
Abstract excerpt
Patients with inherited retinal dystrophies (IRDs) were recruited from two understudied populations: Mexico and Pakistan as well as a third well-studied population of European Americans to define the genetic architecture of IRD by performing whole-genome sequencing (WGS). Whole-genome analysis was performed on 409 individuals from 108 unrelated pedigrees with IRDs. All patients underwent an ophthalmic evaluation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.