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A systematic survey of loss-of-function variants in human protein-coding genes

Science

Feb 22, 2012

Daniel G MacArthurChris Tyler-Smith

Abstract

Genome-sequencing studies indicate that all humans carry many genetic variants predicted to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy in the human genome. Here we apply stringent filters to 2951 putative LoF variants obtained from 185 human g...read more

Mentioned in this Paper

Candidate Disease Gene
Gene Expression
Sequencing
Genetic Equilibrium
NR4A2 protein, human
Alleles
Single Nucleotide Polymorphism
Genome, Human
Selection, Genetic
Variation (Genetics)
67
4
5
1329
1
Paper Details
References
  • References64
  • Citations474
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  • References64
  • Citations474
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A systematic survey of loss-of-function variants in human protein-coding genes

Science

Feb 22, 2012

Daniel G MacArthurChris Tyler-Smith

PMID: 22344438

DOI: 10.1126/science.1215040

Abstract

Genome-sequencing studies indicate that all humans carry many genetic variants predicted to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy in the human genome. Here we apply stringent filters to 2951 putative LoF variants obtained from 185 human g...read more

Mentioned in this Paper

Candidate Disease Gene
Gene Expression
Sequencing
Genetic Equilibrium
NR4A2 protein, human
Alleles
Single Nucleotide Polymorphism
Genome, Human
Selection, Genetic
Variation (Genetics)
67
4
5
1329
1

Feeds With Similar Papers

Science eTOC

Science Magazine is a peer-reviewed academic journal of the American Association for the Advancement of Science. Find the latest research from Science here.

Stanford Department of Genetics

Find the latest research from the Stanford Medicine Department of Genetics here.

Related Papers

Human Molecular Genetics

Loss-of-function variants in the genomes of healthy humans(opens in new tab)

Human Molecular GeneticsSeptember 2, 2010
Daniel G MacArthur, Chris Tyler-Smith
Paper Details
References
  • References64
  • Citations474
12345...
  • References64
  • Citations474
12345...

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