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

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

Gene（2023）

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摘要

•Combining pedigree with extremely low coverage (XLC-WGS) helped identify the p.Ser542* mutation of retinitis pigmentosa.•XLC-WGS is a cost-mitigating alternative to next-generation sequencing (NGS) for discovering disease-causing variants.•XLC-WGS is not suitable for mutation mapping in indels.•Acurate identification of disease-causing mutations in patients require combined bioinformatics, Sanger sequencing, and XLC-WGS analysis.

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关键词

Retinitis Pigmentosa (RP),Multi-generational pedigrees,Genetics,Low-Coverage Sequencing

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