Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

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 p...

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Main Authors: Pooja Biswas, Adda L Villanueva, Angel Soto-Hermida, Jacque L Duncan, Hiroko Matsui, Shyamanga Borooah, Berzhan Kurmanov, Gabriele Richard, Shahid Y Khan, Kari Branham, Bonnie Huang, John Suk, Benjamin Bakall, Jeffrey L Goldberg, Luis Gabriel, Naheed W Khan, Pongali B Raghavendra, Jason Zhou, Sindhu Devalaraja, Andrew Huynh, Akhila Alapati, Qais Zawaydeh, Richard G Weleber, John R Heckenlively, J Fielding Hejtmancik, Sheikh Riazuddin, Paul A Sieving, S Amer Riazuddin, Kelly A Frazer, Radha Ayyagari
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2021-10-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1009848