1Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
2Center for Cancer Genome Discovery, Asan Institute for Life Sciences, Seoul, , Korea
3Samsung Genome Institute, Sungkyunkwan University School of Medicine, Seoul, Korea
4Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
5Department of Pathology, Yonsei University College of Medicine, Seoul, Korea
6Department of Pathology, Seoul National University College of Medicine, Seoul, Korea
© 2017 The Korean Society of Pathologists/The Korean Society for Cytopathology
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Conflicts of Interest
No potential conflict of interest relevant to this article was reported.
Subject | Database/Algorithm | URL |
---|---|---|
Germline polymorphism | dbSNP, dbVar | https://www.ncbi.nlm.nih.gov/projects/SNP/ |
1000 Genomes Project | http://browser.1000genomes.org/ | |
ExAC | http://exac.broadinstitute.org | |
Cancer-specific somatic variants | COSMIC | http://cancer.sanger.ac.uk/cosmic |
cBioPortal | http://www.cbioportal.org/ | |
My Cancer Genome | https://www.mycancergenome.org/ | |
CIViC | https://civic.genome.wustl.edu/#/home | |
Personalized Cancer Therapy, MD Anderson Cancer Center | https://pct.mdanderson.org/#/ | |
Genotype-phenotype association, not limited to cancer | ClinVar | https://www.ncbi.nlm.nih.gov/clinvar/ |
Human Gene Mutation Database | http://www.hgmd.cf.ac.uk/ac/index.php | |
Leiden Open Variation Database | http://www.lovd.nl/3.0/home | |
In silico functional prediction | dbNSFP (pre-computed in silico functional prediction and annotation of non-synonymous SNVs) | http://sites.google.com/site/jpopgen/dbNSFP |
Ensembl Variant Effector Predictor | http://www.ensembl.org/info/docs/tools/vep/index.html |
This list is not comprehensive and only provides some examples. All websites were last accessed on January 3, 2017.
ExAC, Exome Aggregation Consortium; COSMIC, Catalog of Somatic Mutations in Cancer; CIViC, Clinical Interpretations of Variants in Cancer; NSFP, nonsynonymous functional prediction; SNV, single nucleotide variation.
Adapted by permission from Macmillan Publishers Ltd: [Nature Biotechnology] Gargis et al. 2012;30:1033-6, [36] copyright (2012).
NGS, next-generation sequencing.
Adapted by permission from Macmillan Publishers Ltd: [Nature Biotechnology] Gargis et al. 2012;30:1033-6, [36] copyright (2012).
NGS, next-generation sequencing.