Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes.

doi:10.1101/gr.102210.109

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Article

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes.

Genome research - 1 Mar 2010

Goode David L, Cooper Gregory M, Schmutz Jeremy, Dickson Mark, Gonzales Eidelyn, Tsai Ming, Karra Kalpana, Davydov Eugene, Batzoglou Serafim, Myers Richard M, Sidow Arend

Abstract excerpt

Here, we demonstrate how comparative sequence analysis facilitates genome-wide base-pair-level interpretation of individual genetic variation and address two questions of importance for human personal genomics: first, whether an individual's functional variation comes mostly from noncoding or coding polymorphisms; and, second, whether population-specific or globally-present polymorphisms contribute more to...

Topics

Alleles
Amino Acid Sequence
Animals
Base Sequence
Biological Evolution
Gene Frequency
Genetic Testing
Genetic Variation
Genome
Genome, Human
Genomics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Mammals

Phenotype

Polymorphism, Genetic

Regulatory Sequences, Nucleic Acid

Sequence Alignment

Source

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Identifiers

PMID: 20067941
DOI: 10.1101/gr.102210.109
PMCID: PMC2840986

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