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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… Click to show full abstract
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 including a newly developed targeted NGS‐based RNA‐sequencing to explore the splicing effect of intronic variations.
Journal Title: Clinical Genetics
Year Published: 2023
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