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


METHODS
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.


CONCLUSIONS
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.
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.
Meiwei
M
Jia
Yanli
Y
Liu
Zhongchao
Z
Shen
Chen
C
Zhao
Meixia
M
Zhang
Zhenghui
Z
Yi
Chengping
C
Wen
Youping
Y
Deng
Tieliu
T
Shi
D001499:Bayes Theorem; D030541:Databases, Genetic; D004198:Disease Susceptibility; D015894:Genome, Human; D006801:Humans; D020407:Internet; D009154:Mutation; D057386:Search Engine; D017422:Sequence Analysis, DNA; D014584:User-Computer Interface