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Single Nucleotide Polymorphism

Known as: Polymorphisms, Single Nucleotide, Polymorphism, Single Nucleotide, Polymorphism, Single Base 
DNA sequence variations that occur when a single nucleotide (adenine, thymine, cytosine, or guanine) in the genome sequence is altered; usually… 
National Institutes of Health

Papers overview

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Highly Cited
2015
Highly Cited
2015
Phyre2 is a suite of tools available on the web to predict and analyze protein structure, function and mutations. The focus of… 
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, 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… 
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… 
Highly Cited
2011
Highly Cited
2011
Summary: The variant call format (VCF) is a generic format for storing DNA polymorphism data such as SNPs, insertions, deletions… 
Highly Cited
2011
Highly Cited
2011
Review
2011
Review
2011
Rapid improvements in sequencing and array-based platforms are resulting in a flood of diverse genome-wide data, including data… 
Highly Cited
2010
Highly Cited
2010
Next-generation DNA sequencing (NGS) projects, such as the 1000 Genomes Project, are already revolutionizing our understanding of… 
Highly Cited
2004
Highly Cited
2004
  • D. Nyholt
  • American journal of human genetics
  • 2004
  • Corpus ID: 22991968
In this report, we describe a simple correction for multiple testing of single-nucleotide polymorphisms (SNPs) in linkage… 
Highly Cited
2001
Highly Cited
2001
We describe a map of 1.42 million single nucleotide polymorphisms (SNPs) distributed throughout the human genome, providing an… 
Review
1998
Review
1998
Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome, and they provide powerful…