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Article

mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.

Journal of medical genetics - 1 Apr 2015

Li Jinchen, Jiang Yi, Wang Tao, Chen Huiqian, Xie Qing, Shao Qianzhi, Ran Xia, Xia Kun, Sun Zhong Sheng, Wu Jinyu

Abstract excerpt

OBJECTIVES: Recently, several studies documented that de novo mutations (DNMs) play important roles in the aetiology of sporadic diseases. Next-generation sequencing (NGS) enables variant calling at single-base resolution on a genome-wide scale. However, accurate identification of DNMs from NGS d...

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PMID: 25596308
DOI: 10.1136/jmedgenet-2014-102656

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25596308-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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