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Recent "CNV" articles

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Systematic assessment of copy number variant detection via genome-wide SNP genotyping
Gregory Cooper et al.
Nature Genetics, published online 07 Sep 2008
Posted by neveaire and 4 others to CNV on Fri Oct 10 2008 at 19:01 UTC | info | related
 
Integrated detection and population-genetic analysis of SNPs and copy number variation
Steven McCarroll et al.
Nat Genet 40 (10), 1166-74 (Oct 2008)
Posted by neveaire and 2 others to CNV on Fri Oct 10 2008 at 18:32 UTC | info | related
 
Gene amplification in cancer.
Donna G Albertson
Trends in genetics : TIG 22 (8), 447-55 (Aug 2006)
Posted by ggrimes and 1 other to cancer CNV on Thu Oct 02 2008 at 13:48 UTC | info | related
 
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
Joshua Korn et al.
Nature Genetics, published online 07 Sep 2008
Accurate and complete measurement of single nucleotide (SNP) and copy number (CNV) variants, both common and rare, will be required to understand the role of genetic variation in disease. We present Birdsuite, a four-stage analytical framework instantiated in software for deriving integrated and mutually consistent copy number and SNP genotypes. The method sequentially assigns copy number across regions of common copy number polymorphisms (CNPs), calls genotypes of SNPs, identifies rare CNVs via a hidden Markov model (HMM), and generates an integrated sequence and copy number genotype at every locus (for example, including genotypes such as A-null, AAB and BBB in addition to AA, AB and BB calls). Such genotypes more accurately depict the underlying sequence of each individual, reducing the rate of apparent mendelian inconsistencies. The Birdsuite software is applied here to data from the Affymetrix SNP 6.0 array. Additionally, we describe a method, implemented in PLINK, to utilize these combined SNP and CNV genotypes for association testing with a phenotype.
 
PLoS Computational Biology: Inferring Loss-of-Heterozygosity from Unpaired Tumors Using High-Density Oligonucleotide SNP Arrays
www.ploscompbiol.org
 
Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes.
Fan Shen et al.
BMC genetics 9 (1), 27 (28 Mar 2008)
Posted by kniall and 4 others to affymetrix CNV Microarray snp on Tue Sep 23 2008 at 00:03 UTC | info | related
 
Genotype, haplotype and copy-number variation in worldwide human populations
Mattias Jakobsson et al.
Nature 451 (7181), 998-1003 (21 Feb 2008)
Posted by kniall and 7 others with 1 comment to CNV snp on Mon Sep 22 2008 at 23:57 UTC | info | related
 
Global variation in copy number in the human genome
Richard Redon et al.
Nature 444 (7118), 444-54 (23 Nov 2006)
Posted by kniall and 33 others with 1 comment to CNV Microarray snp on Mon Sep 22 2008 at 23:50 UTC | info | related
 
A robust statistical method for case-control association testing with copy number variation
Chris Barnes et al.
Nature Genetics, published online 07 Sep 2008
 
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
Joshua Korn et al.
Nature Genetics, published online 07 Sep 2008

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