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Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS).

Gene - 30 Jan 2023

Lázaro-Guevara José M, Flores-Robles Bryan-Josué, Garrido-Lopez Karen M, McKeown Ryan J, Flores-Morán Adriana E, Labrador-Sánchez Eztizen, Pinillos-Aransay Valvanera, Trasahedo Estibaliz A, López-Martín Juan-Antonio, Soberanis Laura Sofía Reyna, Melgar Mariano Yee, Téllez-Arreola José Luis, Thébault Stéphanie C

Abstract excerpt

MOTIVATION: Next-generation sequencing (NGS) technologies are decisive for discovering disease-causing variants, although their cost limits their utility in a clinical setting. A cost-mitigating alternative is an extremely low coverage whole-genome sequencing (XLC-WGS). We investigated its use to identify causal variants within a multi-generational pedigree of individuals with retinitis pigmentosa (RP). Causing...

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PMID: 36341727
DOI: 10.1016/j.gene.2022.146956

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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