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Table 1 Some of the main data repositories of genetic variation associated with human phenotypes and disease

From: Getting personalized cancer genome analysis into the clinic: the challenges in bioinformatics

Name Description URL Reference
dbSNP General catalog of polymorphisms http://www.ncbi.nlm.nih.gov/SNP [142]
Ensembl Maps known mutations and SNPs in the human genome from other databases http://www.ensembl.org [143]
OMIM Online Mendelian Inheritance in Man; a large collection of disease annotations, often for monogenetic diseases http://www.ncbi.nlm.nih.gov/omim/ [144]
COSMIC Catalog of somatic mutations in cancer http://www.sanger.ac.uk/genetics/CGP/cosmic/ [145]
CGC Cancer Gene Census http://www.sanger.ac.uk/genetics/CGP/Census/ [146]