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Article

Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder.

Journal of human genetics - 1 Jul 2021

Ohori Sachiko, Tsuburaya Rie S, Kinoshita Masako, Miyagi Etsuko, Mizuguchi Takeshi, Mitsuhashi Satomi, Frith Martin C, Matsumoto Naomichi

Abstract excerpt

Whole-exome sequencing (WES) can detect not only single-nucleotide variants in causal genes, but also pathogenic copy-number variations using several methods. However, there may be overlooked pathogenic variations in the out of target genome regions of WES analysis (e.g., promoters), leaving many patients undiagnosed. Whole-genome sequencing (WGS) can potentially analyze such regions. We applied long-read...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33510365
DOI: 10.1038/s10038-020-00893-8

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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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