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BMC Med Genomics. 2013;6 Suppl 1:S16. doi: 10.1186/1755-8794-6-S1-S16. Epub 2013 Jan 23.

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

Author information

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

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.

PMID:
23369322
PMCID:
PMC3552701
DOI:
10.1186/1755-8794-6-S1-S16
[Indexed for MEDLINE]
Free PMC Article

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