Large-Scale Copy Number Polymorphism in the Human Genome

By Jonathan Sebat, B. Lakshmi, J. Troge, Joan Alexander, Janet M. Young, P. Lundin, S. Månér, H. Massa, M. Walker, M. Chi and 11 more. Science, 2004

2,601 citations recorded by the source corpus.

Subfields: Genetics, Plant Science

View Paper: https://www.semanticscholar.org/paper/281939819f7ca10ea68d66913bbe2de34852d63a

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Citations in the corpus

Comparative analysis of algorithms for identifying amplifications and deletions in array CGH data (2005, methodology): “A different kind of modeling approach involves the Hidden Markov models (HMMs), in which the underlying copy numbers are the hidden states with certain transition probabilities (Snijders et al., 2003; Sebat et al., 2004; Fridlyand et al., 2004).”
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. (2009, methodology): “8,9 For example, using the complementary technologiesof single-nucleotidepolymorphism (SNP) genotyping arrays and clone-based comparative genomic hybridization, Redon et al 10 generated a global map of copy-number variable regions (CNVRs) in the human genome and found 1447 CNVRs covering…”
Genome-wide in situ exon capture for selective resequencing (2007, methodology): “Genome-wide tiling arrays have been used for detecting copy number polymorphism”
Missing heritability and strategies for finding the underlying causes of complex disease (2010, background): “The first is the exploration of the landscape and impact of large variants (deletions, duplications and inversions) that are individually rare but collectively common in the human populatio”
The neurobiology of multiple sclerosis: genes, inflammation, and neurodegeneration. (2006, background): “, 2002), and copy number polymorphisms (CNPs) contribute substantially to normal human genomic variation for numerous genes involved in neurological function, regulation of cell growth, and regulation of metabolism (Sebat et al., 2004).”
Human genetic variation and its contribution to complex traits (2009, background): “As the prevalence and contribution of structural variants to human biology was realize”
Natural genetic variation caused by small insertions and deletions in the human genome. (2011, methodology): “…The 1000 Genomes Project Consortium 2010), and larger structural variants ranging from 10 kb to several megabases in length (Iafrate et al. 2004; Sebat et al. 2004; Tuzun et al. 2005; Conrad et al. 2006, 2010a,b; Hinds et al. 2006; McCarroll et al. 2006; Kidd et al. 2008; The 1000 Genomes…”
Recent advances of genome mapping and marker‐assisted selection in aquaculture (2013, background): “CNV is a form of structural variation (Sebat et al. 2004).”
CNV-seq, a new method to detect copy number variation using high-throughput sequencing (2009, background): “Background DNA copy number variation (CNV) has long been known as a source of genetic variation, but its importance has only been recognized recently [1,2].”
Sequencing technologies — the next generation (2010, background): “This is important because undiscovered SVs could account for a substantial fraction of the total number of sequence variants, many of which could be potentially causative in diseas”