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Ramos, A. H. et al. Oncotator: cancer variant annotation tool.
Ramos, A.H. et al. Oncotator: cancer variant annotation tool.
Tzelepi, V. et al. Modeling a lethal prostate cancer variant with small-cell carcinoma features.
Betge J, Kerr G, Miersch T et al. Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.
For ∼100 genomic mutations, the protocol including target primer design, variant library construction, and sequence verification can be completed within as little as 2 3 weeks, and cancer variant stratification can be completed within 2 weeks.
The same study also identified a breast cancer variant in the 8q24 region containing no known genes.
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The Catalogue of Somatic Mutations in Cancer (COSMIC) database v64 was used to identify somatic cancer variants.
Milacic, M. et al. Annotating cancer variants and anti-cancer therapeutics in Reactome.
Milacic, M. et al. Annotating cancer variants and anti-cancer therapeutics in reactome.
Kim, E. et al. Systematic functional interrogation of rare cancer variants identifies oncogenic alleles.
A complete understanding of human cancer variants requires new methods to systematically and efficiently assess the functional effects of genomic mutations at a large scale.
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