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Article

Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing.

Clinical genetics - 1 Jun 2023

Dirix Marie, Gribouval Olivier, Arrondel Christelle, Benjelloun Saadia, Boyer Olivia, Charbit Marina, Antignac Corinne, Heidet Laurence, Dorval Guillaume

Abstract excerpt

Whole-genome sequencing (WGS) now allows identification of multiple variants in non-coding regions. The large number of variants identified by WGS however complicates their interpretation. Through identification of the first deep intronic variant in NPHS2, which encodes podocin, a protein implicated in autosomal recessive steroid resistant nephrotic syndrome (SRNS), we compare herein three different tools...

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PMID: 36705481
DOI: 10.1111/cge.14305

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