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Article

Clinical application of next-generation sequencing for Mendelian diseases.

Human genomics - 16 Jun 2015

Jamuar Saumya Shekhar, Tan Ene-Choo

Abstract excerpt

Over the past decade, next-generation sequencing (NGS) has led to an exponential increase in our understanding of the genetic basis of Mendelian diseases. NGS allows for the analysis of multiple regions of the genome in one single reaction and has been shown to be a cost-effective and efficient tool in investigating patients with Mendelian diseases. More recently, NGS has been successfully deployed in the...

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Identifiers

PMID: 26076878
DOI: 10.1186/s40246-015-0031-5
PMCID: PMC4482154

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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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