Integrated detection and population-genetic analysis of SNPs and copy number variation

By Steven A. McCarroll, F. Kuruvilla, Joshua M. Korn, S. Cawley, J. Nemesh, Alec Wysoker, M. Shapero, P. D. Bakker, J. Maller, Andrew W. Kirby and 16 more. Nature Genetics, 2008

996 citations recorded by the source corpus.

Subfields: Cancer Research, Genetics

View Paper: https://www.semanticscholar.org/paper/3bd835e6110f3c00ad9c35efa406ccaffa9c6483

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cancer Research

In Genetics

Citations in the corpus

Sensitive and accurate detection of copy number variants using read depth of coverage. (2009, background): “platforms that consist of more than 1 million probes have a lower limit of detection of;10–25 kb (McCarroll et al. 2008; Cooper et al. 2008).”
Missing heritability and strategies for finding the underlying causes of complex disease (2010, background): “Human genomes are rich in structural diversity, but the discovery and genotyping of this type of variation has lagged far behind those of the SN”
Current trends in microsatellite genotyping (2011, methodology): “In contrast, SNPs are potentially amenable to typing through many techniques, including digital typing methods using chip technology, allowing the development of ultra-high-density methods (Syvänen 2005; McCarroll et al. 2008).”
A Copy Number Variation Morbidity Map of Developmental Delay (2011, neutral): “We determined deletion events at three genes to be polymorphism”
The Cancer Genome Atlas (TCGA): an immeasurable source of knowledge (2015, background): “Array-based detection of single nucleotide polymorphisms (SNPs) included platforms able to define SNP, CNV, and loss of LOH across multiple samples [19, 20].”
Characterising and Predicting Haploinsufficiency in the Human Genome (2010, methodology): “0 platform, 210 unrelated HapMap individuals [28], 2,421 control individuals used in GWAS studies of bipolar and schizophrenia [17] and 6,000 individuals participating WTCCC2 as common controls, using Birdsuite [29].”
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs (2008, methodology): “Although initially developed for use with new, hybrid genotyping arrays designed to capture SNP and copy number information simultaneousl”
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. (2010, background): “Population studies suggest that >99% of all benign CNVs are inherited, and the vast majority of inherited CNVs are much smaller than 500 kb.(95) Most pathogenic copy-number alterations are larger than 1 Mb, and most occur de novo.”
Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer. (2017, positive): “Copy Number Analysis—DNA from each tumour or germline sample was hybridized to Affymetrix SNP 6.0 arrays using protocols at the Genome Analysis Platform of the Broad Institute as previously described (McCarroll et al., 2008).”