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Human Germline and Somatic Variomes and their Distinct Functional Profiles Open Access

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Non-synonymous single nucleotide variation (nsSNV) can have profound phenotypic/disease implications. Identification of such variations in both germline and somatic cells has exponentially increased over the past decade due to advances in Next-Generation Sequencing (NGS) technologies. Available lists of nsSNVs in different populations and cancer types provide us an unprecedented view of the human and cancer variomes. In this study a pan-cancer analysis across 12 different cancer types led to the identification of 13 genes with 62 mutations that occur across several cancer types and can therefore be prioritized for additional validation as diagnostic and therapeutic targets. Data: http://hive.biochemistry.gwu.edu/tools/var2function/.

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