常用人类基因突变及注释数据库

　　1 ClinVar

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

　　b.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的关系。

       Database of assertions about the clinical significance and phenotype relationship of human variations.

　　2 OMIM

　　a.http://www.ncbi.nlm.nih.gov/omim

　　b.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 subsc ription 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.

　　11 NCBI Genome

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

　　b.一个人类全基因组序列数据库。

       Source of full human genome reference sequences.

　　12 RefSeqGene

　　a.http://www.ncbi.nlm.nih.gov/refseq/rsg

       b.医学相关基因参考序列数据源.

       Medically relevant gene reference sequence resource.

　　13 Locus Reference Genomic (LRG)

　　a.http://www.lrg-sequence.org

       b.一个参考基因序列库

　　14 MitoMap

　　a.http://www.mitomap.org/MITOMAP/HumanMitoSeq，

　　b.人类线粒体参考基因序列库，相关基因突变与疾病数据库

       Revised Cambridge reference sequence for human mitochondrial DNA.

　　15 PharmGKB

　　a.https://www.pharmgkb.org/

　　b.药物基因组学数据库，药物对特定基因型人群的药效，药物对特定基因型人群的副作用，特定基因型导致的药物代谢动力学改变

　　16 SNPedia

　　http://www.snpedia.com/

　　17 UMD

　　18 BIC

　　19 GWAS

　　http://www.gwascentral.org/

　　20 VISIFT

　　21 COSMIC

　　22 PubMed

　　23 NCBI Biosystems Database

　　24 ENCODE dnase

　　25 ENCODE thbs

　　26 HPO(Human Phenotype Ontology)

　　27 HPO mapping hpo codes to genes

　　28 ENSEMBLE VEP

　　29 Gene Ontology

　　30 Clinical Genomic Database

　　31 Actionable Cancer Variations

　　32 Cancer Gene Census(COSMIC)

　　33 Gene Ontology

　　34 DGV database

　　http://dgv.tcag.ca/dgv/app/home

　　35 TCGA (The Cancer Genome Atlas) Data Portal

　　https://tcga-data.nci.nih.gov/tcga/

　　36 HGV database

　　https://hgv.figshare.com/