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… (More)

Topic mentions per year

Topic mentions per year

1970-2017
020004000600019702017

Papers overview

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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… (More)
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Highly Cited
2007
Highly Cited
2007
Extensive studies are currently being performed to associate disease susceptibility with one form of genetic variation, namely… (More)
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Highly Cited
2005
Highly Cited
2005
We have developed a robust algorithm for copy number analysis of the human genome using high-density oligonucleotide microarrays… (More)
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Highly Cited
2004
Highly Cited
2004
The tumor suppressor p53 gene is mutated in minimally half of all cancers. It is therefore reasonable to assume that naturally… (More)
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Highly Cited
2003
Highly Cited
2003
Single-nucleotide polymorphisms (SNPs) provide an abundant source of DNA polymorphisms in a number of eukaryotic species… (More)
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Highly Cited
2002
Highly Cited
2002
The detection of single nucleotide polymorphisms by PCR is necessary for many types of genetic analysis, from mapping genomes to… (More)
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Highly Cited
2002
Highly Cited
2002
Haplotypes have gained increasing attention in the mapping of complex-disease genes, because of the abundance of single… (More)
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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… (More)
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Highly Cited
2000
Highly Cited
2000
There is a growing demand for high-throughput methods for analysis of single-nucleotide polymorphic (SNP) positions. Here, we… (More)
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Highly Cited
1999
Highly Cited
1999
Single-nucleotide polymorphisms (SNPs) are the most abundant form of human genetic variation and a resource for mapping complex… (More)
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