Detection of large-scale variation in the human genome

By A. J. Iafrate, L. Feuk, Miguel N. Rivera, M. Listewnik, Patricia K. Donahoe, Y. Qi, Stephen W. Scherer, Charles Lee. Nature Genetics, 2004

3,003 citations recorded by the source corpus.

Subfields: Genetics, Plant Science

View Paper: https://www.semanticscholar.org/paper/f31375f51391b23414a09dec0c2550fd2c92ee15

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Citations in the corpus

A Genome-Wide Association Study Confirms VKORC1, CYP2C9, and CYP4F2 as Principal Genetic Determinants of Warfarin Dose (2009, background): “%) of the non-singleton regions overlapped CNVs from the Database of Genomic Variants [33].”
Mapping autism risk loci using genetic linkage and chromosomal rearrangements (2007, background): “In the broad subset, results are stronger for rs1363036 (dominant, P ¼ 0.0041) but are weaker for rs930752 (dominant, P ¼ 0.076; additive, P ¼ 0.072).”
The Database of Genomic Variants: a curated collection of structural variation in the human genome (2013, methodology): “The Database of Genomic Variants (DGV) was launched following the publication of the inaugural CNV articles that described the genome-wide prevalence of CNV in the genomes of healthy, clinically unaffected individuals (4,5).”
The UCSC Genome Browser Database: update 2009 (2008, methodology): “Certain other datasets are also updated regularly via new automated processes, including Ensembl genes annotations (5) on several organisms (updated 3–5 times a year), monthly updates of mouse data from the International Gene Trap Consortium (IGTC) (11) and regular new releases of the Database of Ge”
Subtype-specific genomic alterations define new targets for soft tissue sarcoma therapy (2010, neutral): “These were combined with a subset of known variants (DGV, version 3”
CNV-seq, a new method to detect copy number variation using high-throughput sequencing (2009, background): “The comparison of the 174 CNV calls with those in the Database of Genomic Variants (DGV) [2] revealed 142 of the CNV calls to overlap more than 50% with previously reported CNV regions.”
Computational methods for discovering structural variation with next-generation sequencing (2009, neutral): “1374" language="eng" publish="supp" relation="no"> The discovery of structural variatio”
The UCSC Genome Browser database: update 2010 (2009, background): “The Ensembl Genes (6) track, available on 25 different organisms, and the Database of Genomic Variants (DGV) track (20,21), which contains genomic variations observed in healthy human individuals, are updated whenever a new version is released.”
Fine-scale structural variation of the human genome (2005, background): “Two recent studies presented surveys of copy-number variation in the human genome using comparative microarray technology (oligonucleotide and BAC-based”
Ensembl variation resources (2010, background): “There is also additional reference copy number and structural variation (CNV/SV) data planned to be incorporated from the Database of Genomic Variants [35] and other public archives that store CNV/SV data.”