Mutation Detection

The detection by physical, chemical, or biological means of an altered DNA sequence. Includes SSCP, DNA sequencing, hybridization, and reporter gene… (More)
National Institutes of Health

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Highly Cited
2013
Highly Cited
2013
OBJECTIVES Next-generation sequencing (NGS) allows for high-throughput sequencing analysis of large regions of the human genome… (More)
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Highly Cited
2013
Highly Cited
2013
The ability to precisely modify endogenous genes can significantly facilitate biological studies and disease treatment, and the… (More)
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2013
2013
The identification of small sequence variants remains a challenging but critical step in the analysis of next-generation… (More)
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Highly Cited
2012
Highly Cited
2012
With next-generation DNA sequencing technologies, one can interrogate a specific genomic region of interest at very high depth of… (More)
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Highly Cited
2010
Highly Cited
2010
Somatic mutations in PIK3CA (encoding a class I phosphoinositide 3 kinase (PI3K) subunit) modulate PI3K signalling to influence… (More)
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Highly Cited
2009
Highly Cited
2009
KRAS mutations have been detected in approximately 30% of all human tumors, and have been shown to predict response to some… (More)
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Highly Cited
2009
Highly Cited
2009
Targeted RNA-Seq combines next-generation sequencing with capture of sequences from a relevant subset of a transcriptome. When… (More)
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Highly Cited
2007
Highly Cited
2007
Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated by genetic and… (More)
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Highly Cited
2005
Highly Cited
2005
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in multiple… (More)
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Highly Cited
1994
Highly Cited
1994
The gene responsible for cystic fibrosis (CF) contains 27 coding exons and more than 300 independent mutations have been… (More)
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