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Article

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.

The Journal of molecular diagnostics : JMD - 1 May 2016

Qin Lan, Wang Jing, Tian Xia, Yu Hui, Truong Cavatina, Mitchell John J, Wierenga Klaas J, Craigen William J, Zhang Victor Wei, Wong Lee-Jun C

Abstract excerpt

The identification of mosaicism is important in establishing a disease diagnosis, assessing recurrence risk, and genetic counseling. Next-generation sequencing (NGS) with deep sequence coverage enhances sensitivity and allows for accurate quantification of the level of mosaicism. NGS identifies low-level mosaicism that would be undetectable by conventional Sanger sequencing. A customized DNA probe library was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26944031
DOI: 10.1016/j.jmoldx.2016.01.002

Genes

JAG1
OTC
PDHA1
PYGM

Provenance

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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