解码生命 守护健康

    1.ClinVar        

1. http://www.ncbi.nlm.nih.gov/clinvar/

2. 疾病基因突变数据库，关于人类基因变异的临床致病的显著性、和表型，Database of assertions about the clinical significance and phenotype relationship of human variations.

          2.OMIM          

1. http://www.ncbi.nlm.nih.gov/omim

2. 疾病基因突变数据库，人类基因和遗传信息数据库，包含了有代表性的、与疾病相关的遗传变异，Database of human genes and genetic conditions that also contains a representative sampling of disease-associated genetic variants.

   
    

   3.HGMD    

   a.http://www.biobase-international.com/product/hgmd

   b.疾病基因突变注释数据库，收集文献发表的基因变异与疾病的关系      信息，Database of variant annotations published in the literature.         Requires fee-based subscription to access much of the content.


 

   4.dbSNP   

   a.http://www.ncbi.nlm.nih.gov/snp

   b.群体数据库，收集SNP和Indel信息。Database of short genetic          variations (typically ≤50 bp) submitted from many sources. May lack    details of the originating study and may contain pathogenic variants.


 

  5.DECIPHER, 

  a.http://decipher.sanger.ac.uk,

  b. 一个疾病基因突变数据库，A molecular cytogenetic database for     clinicians and researchers linking genomic microarray data with           phenotype using the Ensembl genome browser.




 6.HGVS, 

 a.http://www.hgvs.org/dblist/dblist.html, 

 b.一个疾病基因突变数据库，The Human Genome Variation Society  site developed a list of  thousands of databases that provide variant  annotations on specific subsets of human variation. A large  percentage of databases are built in the Leiden Open Variation    Database system.


 

7.1000 Genomes Project,

a.http://browser.1000genomes.org

b.千人基因组计划，群体基因组数据库，Database of variants found during low-coverage and high-coverage genomic and targeted sequencing from 26 populations. Provides more diversity compared to the Exome Variant Server but also contains lower-quality data, and some cohorts contain related individuals.




8.EXAC (Exome Aggregation Consortium)

a.http://exac.broadinstitute.org/

b.一个群体数据库，Database of variants found during exome sequencing of 61,486 unrelated individuals sequenced as part of various disease-specific and population genetic studies. Pediatric disease subjects as well as related individuals were excluded.




9.Exome Variant Server

a.http://evs.gs.washington.edu/EVS

b.一个群体数据库，Database of variants found during exome sequencing of several large cohorts of individuals of European and African American ancestry. Includes coverage data to inform the absence of variation.




10.dbVar

a.http://www.ncbi.nlm.nih.gov/dbvar

b.一个群体数据库，Database of structural variation (typically >50 bp) submitted from many sources.


 


 

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