HDAM: a resource of human disease associated mutations from next generation sequencing studiesReportar como inadecuado

HDAM: a resource of human disease associated mutations from next generation sequencing studies - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

BMC Medical Genomics

, 6:S16

First Online: 23 January 2013


BackgroundNext 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.

DescriptionThe 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.

ConclusionHDAM 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.

Download fulltext PDF

Autor: Meiwen Jia - Yanli Liu - Zhongchao Shen - Chen Zhao - Meixia Zhang - Zhenghui Yi - Chengping Wen - Youping Deng - Tieliu 

Fuente: https://link.springer.com/

Documentos relacionados