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Genetic Polymorphism

Known as: Genetic Polymorphisms, polymorphisms, Polymorphism 
The regular and simultaneous occurrence of alternative nucleotide sequences at equivalent locations of the genetic material among individuals of a… Expand
National Institutes of Health

Papers overview

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Highly Cited
2015
Highly Cited
2015
  • Adam Gonçalo R. David M. Richard M. Gonçalo R. David R. Auton Abecasis Altshuler Durbin Abecasis Bentley C, A. Auton, +73 authors Shane A. McCarthy
  • Nature
  • 2015
  • Corpus ID: 43990087
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole… Expand
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Highly Cited
2012
Highly Cited
2012
By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a… Expand
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Highly Cited
2012
Highly Cited
2012
We describe a new computer program, SnpEff, for rapidly categorizing the effects of variants in genome sequences. Once a genome… Expand
Highly Cited
1998
Highly Cited
1998
A common mutation in methylenetetrahydrofolate reductase (MTHFR), C677T, results in a thermolabile variant with reduced activity… Expand
Highly Cited
1994
Highly Cited
1994
In humans, glutathione-dependent conjugation of halomethanes is polymorphic, with 60% of the population classed as conjugators… Expand
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Highly Cited
1994
Highly Cited
1994
Simple sequence repeats (SSR), or microsatellites, are ubiquitous in eukaryotic genomes. Here we demonstrate the utility of… Expand
Highly Cited
1990
Highly Cited
1990
Molecular genetic maps are commonly constructed by analyzing the segregation of restriction fragment length polymorphisms (RFLPs… Expand
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Highly Cited
1989
Highly Cited
1989
We developed mobility shift analysis of single-stranded DNAs on neutral polyacrylamide gel electrophoresis to detect DNA… Expand
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Highly Cited
1988
Highly Cited
1988
We have devised a simple and efficient cDNA cloning strategy that overcomes many of the difficulties encountered in obtaining… Expand
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Review
1980
Review
1980
We describe a new basis for the construction of a genetic linkage map of the human genome. The basic principle of the mapping… Expand
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