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Genomic variants with a key role in causing cancer or affecting the response to cancertherapeutics need to be identified so that they can be targeted for therapy. The transFIC tool aimsto identify somatic point mutations that drive cancer in sequencing projects. This package isavailable as a web service, a stand-alone program and a website. It improves the functionalprediction scores generated by...
An important challenge in translational bioinformatics is to understand how genetic variation gives rise to molecular changes at the protein level that can precipitate both monogenic and complex disease. To this end, we compiled datasets of human disease‐associated amino acid substitutions (AAS) in the contexts of inherited monogenic disease, complex disease, functional polymorphisms with no known...
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