Copy-number variation

Results: 217



#Item
101Science / Bioinformatics / Medical genetics / Copy-number variation / Molecular biology / UCSC Genome Browser / DECIPHER / Genome browser / Cytogenetics / Biology / Genetics / Biological databases

Title of Symposium: Workshop on Interpretation of Copy Number Variants (CNVs) Speakers: Dr. Evica Rajcan-Separovic, Clinical Cytogeneticist and Associate Professor, Department of Pathology, Children’s Hospital and Uni

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Source URL: www.ccmg-ccgm.org

Language: English - Date: 2014-10-30 09:20:45
102Structural variation / Segmental duplication / Non allelic homologous recombination / Genomes Project / Genome / Gene duplication / Reference genome / Human genome / Gene / Biology / Genetics / Copy-number variation

REVIEW ARTICLE published: 18 February 2014 doi: [removed]fgene[removed]The challenges and importance of structural variation detection in livestock

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Source URL: www.aipl.arsusda.gov

Language: English - Date: 2014-05-30 14:01:53
103Copy-number variation / DNA sequencing / Exome sequencing / Full genome sequencing / Excavator / Medical genetics / Center for Applied Genomics / Biology / Molecular biology / Genetics

Copy Number Variation (CNV) detection in whole exome sequencing data for Mendelian disorders Peng Zhang, Hua Ling, Elizabeth Pugh, Kurt Hetrick, Dane Witmer, Nara Sobreira, David Valle, Kim Doheny Center for Inherited Di

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Source URL: www.cidr.jhmi.edu

Language: English - Date: 2014-10-16 09:00:59
104Genomics / DNA / Copy-number variation / Single-nucleotide polymorphism / Restriction fragment length polymorphism / Biology / Molecular biology / Genetics

ABSTRACT #4 OPEN SOURCE TOOLS TO EXPLOIT DNA SEQUENCE DATA FROM LIVESTOCK SPECIES Derek M. Bickhart1, Jana L. Hutchison1, Lingyang Xu2,3, Jiuzhou Song3, George E. Liu2 1

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Source URL: www.aipl.arsusda.gov

Language: English - Date: 2013-05-09 11:29:35
105Microarrays / Cancer research / Molecular genetics / Autism / Genetics / National Institutes of Health / Copy-number variation / Comparative genomic hybridization / Representation oligonucleotide microarray analysis / Medicine / Biology / Health

NIH Public Access Author Manuscript Genet Med. Author manuscript; available in PMC 2008 January 30. NIH-PA Author Manuscript

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Source URL: www.ncbi.nlm.nih.gov

Language: English
106Microbiome / Virus / Experiment / Gut flora / Ecology / Epistemology / Causality / Microbiology / Biology / Science

Targeted analysis of nucleotide and copy number variation by exon capture in allotetraploid wheat genome

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Source URL: gilbertlab.com

Language: English - Date: 2014-10-08 11:16:55
107Population genetics / DNA / Genetic epidemiology / Genome-wide association study / Single-nucleotide polymorphism / Genotyping / Copy-number variation / Tuberculosis / International HapMap Project / Biology / Genetics / Molecular biology

Research Stimulus Fund Final Report Bovine snpChip genome localisation of production and disease resistance genes DAFM Project Ref No:

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Source URL: www.agriculture.gov.ie

Language: English - Date: 2014-07-29 17:05:49
108Population genetics / Genetic genealogy / Classical genetics / Molecular biology / International HapMap Project / Haplotype / Structural variation / Copy-number variation / Single-nucleotide polymorphism / Genetics / Biology / Philosophy of biology

letters Structural haplotypes and recent evolution of the human 17q21.31 region © 2012 Nature America, Inc. All rights reserved.

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Source URL: genepath.med.harvard.edu

Language: English - Date: 2012-07-11 10:04:48
109Microarrays / Bioinformatics / DNA / Gene expression / SNP array / DNA microarray / Loss of heterozygosity / Comparative genomic hybridization / Copy-number variation / Biology / Genetics / Molecular biology

Original Research Article © American College of Medical Genetics and Genomics Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities

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Source URL: www.nature.com

Language: English - Date: 2013-09-05 11:06:25
110Replication timing / Copy-number variation / Mutation / DNA repair / DNA / Point mutation / Gene / Origin of replication / Human genome / Biology / Genetics / Homologous recombination

Please cite this article in press as: Koren et al., Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation, The American Journal of Human Genetics (2012), http://dx.doi.org

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Source URL: genepath.med.harvard.edu

Language: English - Date: 2012-11-26 09:07:39
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