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This article is part of the supplement: Proceedings of the 2011 International Conference on Bioinformatics and Computational Biology (BIOCOMP'11)

Open Access Research

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

Meiwen Jia1, Yanli Liu1, Zhongchao Shen1, Chen Zhao1, Meixia Zhang2, Zhenghui Yi3, Chengping Wen4, Youping Deng5 and Tieliu Shi1*

Author Affiliations

1 Center for Bioinformatics and Computational Biology, Shanghai Key Laboratory of Regulatory Biology, the Institute of Biomedical Sciences and School of Life Science, East China Normal University, Shanghai 200241, China

2 Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China

3 Schizophrenia Program, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China

4 TCM Clinical Basis Institute, Zhejiang University of Chinese Medicine, Hangzhou, Zhejiang, 310053, China

5 Rush University Cancer Center, Department of Internal Medicine, Rush University Medical Center, Chicago, IL 60612, USA

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BMC Medical Genomics 2013, 6(Suppl 1):S16  doi:10.1186/1755-8794-6-S1-S16

Published: 23 January 2013

Abstract

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 (HDAM) database is dedicated to collect, standardize and re-annotate mutations for human diseases discovered by NGS studies. In the current release, HDAM contains 1,114 mutations, located in 669 genes and associated with 125 human diseases through literature mining. All mutation records have uniform and unequivocal descriptions of sequence changes according to the Human Genome Sequence Variation Society (HGVS) nomenclature recommendations. Each entry displays comprehensive information, including mutation location in genome (hg18/hg19), gene functional annotation, protein domain annotation, susceptible diseases, the first literature report of the mutation and etc. Moreover, new mutation-disease relationships predicted by Bayesian network are also presented under each mutation.

Conclusion

HDAM contains hundreds rigorously curated human mutations from NGS studies and was created to provide a comprehensive view of these mutations that confer susceptibility to the common disorders. HDAM can be freely accessed at http://www.megabionet.org/HDAM webcite.