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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 [142]
Ensembl Maps known mutations and SNPs in the human genome from other databases [143]
OMIM Online Mendelian Inheritance in Man; a large collection of disease annotations, often for monogenetic diseases [144]
COSMIC Catalog of somatic mutations in cancer [145]
CGC Cancer Gene Census [146]