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Article

HDAM: a resource of human disease associated mutations from next generation sequencing studies.

BMC medical genomics - 1 Jan 2013

Jia Meiwei, Liu Yanli, Shen Zhongchao, Zhao Chen, Zhang Meixia, Yi Zhenghui, Wen Chengping, Deng Youping, Shi Tieliu

Abstract excerpt

BACKGROUND: Next generation sequencing (NGS) technologies have greatly facilitated the rapid and economical detection of pathogenic mutations in human disorders. However, mutation descriptions are hard to be compared and integrated due to various reference sequences and annotation tools adopted in different articles as well as the nomenclature of diseases/traits. DESCRIPTION: The Human Disease Associated Mutation...

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Identifiers

PMID: 23369322
DOI: 10.1186/1755-8794-6-S1-S16
PMCID: PMC3552701

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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