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Article

Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.

Scientific reports - 29 Aug 2017

Cho Yangrae, Lee Chul-Ho, Jeong Eun-Goo, Kim Min-Ho, Hong Jong Hui, Ko Younhee, Lee Bomnun, Yun Gilly, Kim Byong Joon, Jung Jongcheol, Jung Jongsun, Lee Jin-Sung

Abstract excerpt

Next-generation sequencing (NGS) technology has improved enough to discover mutations associated with genetic diseases. Our study evaluated the feasibility of targeted NGS as a primary screening tool to detect causal variants and subsequently predict genetic diseases. We performed parallel computations on 3.7-megabase-targeted regions to detect disease-causing mutations in 103 participants consisting of 81...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28851938
DOI: 10.1038/s41598-017-09247-5
PMCID: PMC5574920

Provenance

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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