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A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations.

Scientific reports - 19 Mar 2015

Miya Fuyuki, Kato Mitsuhiro, Shiohama Tadashi, Okamoto Nobuhiko, Saitoh Shinji, Yamasaki Mami, Shigemizu Daichi, Abe Tetsuo, Morizono Takashi, Boroevich Keith A, Kosaki Kenjiro, Kanemura Yonehiro, Tsunoda Tatsuhiko

Abstract excerpt

Whole-exome sequencing (WES) is a useful method to identify disease-causing mutations, however, often no candidate mutations are identified using commonly available targeted probe sets. In a recent analysis, we also could not find candidate mutations for 20.9% (9/43) of our pedigrees with congenital neurological disorder using pre-designed capture probes (SureSelect V4 or V5). One possible cause for this lack of...

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PMID: 25786579
DOI: 10.1038/srep09331
PMCID: PMC4365396

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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