Copy-number variation

Results: 217



#Item
81Medicine / Genetics / Molecular biology / Pervasive developmental disorders / Neurological disorders / Autism spectrum / Exome sequencing / Mutation / Copy-number variation / Biology / Autism / Health

Researchers link spontaneous gene mutations to autism

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Source URL: medicalxpress.com

Language: English - Date: 2015-03-18 18:55:50
82Molecular biology / Microarrays / Chromosomes / SNP array / Copy-number variation / Fluorescence in situ hybridization / Aneuploidy / Deletion / Chromosomal translocation / Biology / Genetics / Cytogenetics

High-resolution molecular karyotyping to detect genetic disorders Constitutional SNP array karyotyping Chromosome constitutional microarray analysis Moderate to severe mental retardation occurs in approximately 1 percent

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Source URL: www.beaumontlaboratory.com

Language: English - Date: 2014-07-01 14:39:06
83Molecular biology / Microarrays / Pregnancy tests / Copy-number variation / Amniocentesis / Aneuploidy / SNP array / Karyotype / Amniotic fluid / Biology / Genetics / Cytogenetics

Know the facts before they’re born Prenatal SNP array karyotyping Prenatal chromosome microarray analysis (CMA) Conventional cytogenetic analysis (karyotyping) permits an analysis of the entire human genome, but does s

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Source URL: www.beaumontlaboratory.com

Language: English - Date: 2014-07-01 14:43:04
84Health / Copy-number variation / Molecular biology / Psychiatry / Center for Applied Genomics / 1q21.1 deletion syndrome / Biology / Medicine / Genetics

ORIGINAL ARTICLE Implication of a Rare Deletion at Distal 16p11.2 in Schizophrenia Saurav Guha, PhD; Elliott Rees, MRes; Ariel Darvasi, PhD; Dobril Ivanov, PhD; Masashi Ikeda, MD, PhD; Sarah E. Bergen, PhD; Patrik K. Ma

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Source URL: archpsyc.jamanetwork.com

Language: English
85Pseudogene / Human genome / Gene duplication / Gene / Copy-number variation / Structural variation / Mutation / Y chromosome / UCSC Genome Browser / Biology / Genetics / Philosophy of biology

Hindawi Publishing Corporation International Journal of Evolutionary Biology Volume 2012, Article ID[removed], 11 pages doi:[removed][removed]Research Article

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Source URL: downloads.hindawi.com

Language: English - Date: 2014-05-08 04:18:20
86Molecular biology / Bioinformatics / DNA sequencing / Illumina / Lumi / Genotyping / Copy-number variation / RNA-Seq / Personal genomics / Biology / Genetics / Microarrays

Microsoft PowerPoint - Core poster[removed]Final.ppt [Read-Only] [Compatibility Mode]

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Source URL: uthscsa.edu

Language: English - Date: 2013-02-18 18:08:26
87Biotechnology / Molecular genetics / Molecular biology / Carcinogenesis / H19 / Loss of heterozygosity / NK2 homeobox 1 / Copy-number variation / Comparative genomic hybridization / Biology / Genetics / Microarrays

Characterizing the cancer in lung adenocarcinoma

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Source URL: www.genome.gov

Language: English - Date: 2014-10-31 16:15:34
88Science / Copy-number variation / Genome-wide association study / International HapMap Project / Schizophrenia / Affymetrix / Genotyping / Center for Applied Genomics / Genetics / Biology / Bioinformatics

Microsoft Word - YOA120063_supp.doc

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Source URL: archpsyc.jamanetwork.com

Language: English
89Immunology / Common variable immunodeficiency / Center for Applied Genomics / Immune disorder / Genome-wide association study / Single-nucleotide polymorphism / Copy-number variation / Allergy / Immune system / Biology / Genetics / Molecular biology

For puzzling childhood immune disorder, gene research opens door to first diagnostic test

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Source URL: medicalxpress.com

Language: English - Date: 2015-03-04 00:39:07
90Genomics / Genetic mapping / Molecular biology / DNA methylation / Illumina / Genome / Human genome / Methylation / Molecular evolution / Biology / Genetics / Epigenetics

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

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Source URL: www.oeb.harvard.edu

Language: English - Date: 2014-05-18 16:01:29
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