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Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome.

Human mutation - 1 Feb 2020

Watson Christopher M, Dean Philip, Camm Nick, Bates Jennifer, Carr Ian M, Gardiner Carol A, Bonthron David T

Abstract excerpt

The diagnostic deployment of massively parallel short-read next-generation sequencing (NGS) has greatly improved genetic test availability, speed, and diagnostic yield, particularly for rare inherited disorders. Nonetheless, diagnostic approaches based on short-read sequencing have a poor ability to accurately detect gene conversion events. We report on the genetic analysis of a family in which 3 fetuses had...

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PMID: 31663672
DOI: 10.1002/humu.23940

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