نتایج جستجو برای: copy number typing

تعداد نتایج: 1213843  

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2012
Kim H Brown Kimberly P Dobrinski Arthur S Lee Omer Gokcumen Ryan E Mills Xinghua Shi Wilson W S Chong Jin Yun Helen Chen Paulo Yoo Sthuthi David Samuel M Peterson Towfique Raj Kwong Wai Choy Barbara E Stranger Robin E Williamson Leonard I Zon Jennifer L Freeman Charles Lee

Copy number variants (CNVs) represent a substantial source of genomic variation in vertebrates and have been associated with numerous human diseases. Despite this, the extent of CNVs in the zebrafish, an important model for human disease, remains unknown. Using 80 zebrafish genomes, representing three commonly used laboratory strains and one native population, we constructed a genome-wide, high...

2011
Djork-Arné Clevert Andreas Mitterecker Andreas Mayr Günter Klambauer Marianne Tuefferd An De Bondt Willem Talloen Hinrich Göhlmann Sepp Hochreiter

Cost-effective oligonucleotide genotyping arrays like the Affymetrix SNP 6.0 are still the predominant technique to measure DNA copy number variations (CNVs). However, CNV detection methods for microarrays overestimate both the number and the size of CNV regions and, consequently, suffer from a high false discovery rate (FDR). A high FDR means that many CNVs are wrongly detected and therefore n...

2014
Eric L Seiser Federico Innocenti

Somatic alterations in DNA copy number have been well studied in numerous malignancies, yet the role of germline DNA copy number variation in cancer is still emerging. Genotyping microarrays generate allele-specific signal intensities to determine genotype, but may also be used to infer DNA copy number using additional computational approaches. Numerous tools have been developed to analyze Illu...

Journal: :Genome research 2006
Jennifer L Freeman George H Perry Lars Feuk Richard Redon Steven A McCarroll David M Altshuler Hiroyuki Aburatani Keith W Jones Chris Tyler-Smith Matthew E Hurles Nigel P Carter Stephen W Scherer Charles Lee

DNA copy number variation has long been associated with specific chromosomal rearrangements and genomic disorders, but its ubiquity in mammalian genomes was not fully realized until recently. Although our understanding of the extent of this variation is still developing, it seems likely that, at least in humans, copy number variants (CNVs) account for a substantial amount of genetic variation. ...

Journal: :Ultrasound in Obstetrics & Gynecology 2018

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