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Article

Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations.

Trends in genetics : TIG - 1 Sept 2011

Kumar Sudhir, Dudley Joel T, Filipski Alan, Liu Li

Abstract excerpt

Modern technologies have made the sequencing of personal genomes routine. They have revealed thousands of nonsynonymous (amino acid altering) single nucleotide variants (nSNVs) of protein-coding DNA per genome. What do these variants foretell about an individual's predisposition to diseases? The experimental technologies required to carry out such evaluations at a genomic scale are not yet available. Fortunately,...

Topics

Computer Simulation
Evolution, Molecular
Genetic Diseases, Inborn
Genetic Predisposition to Disease
Genetic Testing
Genetic Variation
Genetics, Medical
Genomics
Humans
Models, Genetic
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Penetrance

Polymorphism, Single Nucleotide

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Identifiers

PMID: 21764165
DOI: 10.1016/j.tig.2011.06.004
PMCID: PMC3272884

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