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Article

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders.

Journal of human genetics - 1 Oct 2012

Rabbani Bahareh, Mahdieh Nejat, Hosomichi Kazuyoshi, Nakaoka Hirofumi, Inoue Ituro

Abstract excerpt

Traditional approaches for gene mapping from candidate gene studies to positional cloning strategies have been applied for Mendelian disorders. Since 2005, next-generation sequencing (NGS) technologies are improving as rapid, high-throughput and cost-effective approaches to fulfill medical sciences and research demands. Using NGS, the underlying causative genes are directly distinguished via a systematic...

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PMID: 22832387
DOI: 10.1038/jhg.2012.91

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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