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

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

Research output: Contribution to journalArticle

49 Citations (Scopus)

Abstract

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, the process of natural selection has lent us an almost infinite set of tests in nature. During long-term evolution, new mutations and existing variations have been evaluated for their biological consequences in countless species, and outcomes are readily revealed by multispecies genome comparisons. We review studies that have investigated evolutionary characteristics and in silico functional diagnoses of nSNVs found in thousands of disease-associated genes.Weconclude that the patterns of long-term evolutionary conservation and permissible sequence divergence are essential and instructive modalities for functional assessment of human genetic variations.

Original languageEnglish (US)
Pages (from-to)377-386
Number of pages10
JournalTrends in Genetics
Volume27
Issue number9
DOIs
StatePublished - Sep 2011

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Telescopes
Genome
Mutation
Nucleotides
Technology
Amino Acids
Genetic Selection
Medical Genetics
Computer Simulation
DNA
Genes
Proteins

ASJC Scopus subject areas

  • Genetics

Cite this

Phylomedicine : An evolutionary telescope to explore and diagnose the universe of disease mutations. / Kumar, Sudhir; Dudley, Joel T.; Filipski, Alan; Liu, Li.

In: Trends in Genetics, Vol. 27, No. 9, 09.2011, p. 377-386.

Research output: Contribution to journalArticle

Kumar, Sudhir ; Dudley, Joel T. ; Filipski, Alan ; Liu, Li. / Phylomedicine : An evolutionary telescope to explore and diagnose the universe of disease mutations. In: Trends in Genetics. 2011 ; Vol. 27, No. 9. pp. 377-386.
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