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Article

A Method to Evaluate the Quality of Clinical Gene-Panel Sequencing Data for Single-Nucleotide Variant Detection.

The Journal of molecular diagnostics : JMD - 1 Sept 2017

Lee Chung, Bae Joon S, Ryu Gyu H, Kim Nayoung K D, Park Donghyun, Chung Jongsuk, Kyung Sungkyu, Joung Je-Gun, Shin Hyun-Tae, Shin Seung-Ho, Kim Younglan, Kim Byung S, Lee Hojun, Kim Kyoung-Mee, Kim Jung-Sun, Park Woong-Yang, Son Dae-Soon

Abstract excerpt

Customized gene-panel tests, based on next-generation sequencing, have demonstrated their usefulness in a plethora of clinical settings. As with other clinical diagnostic techniques, gene-panel sequencing for clinical purposes requires precise quality control (QC) measures to ensure its reliability. Only detected variants are currently recorded in clinical reports; however, identifying whether a nondetected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28743024
DOI: 10.1016/j.jmoldx.2017.06.001

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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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