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High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications

Genome Research

Sep 1, 2009

Tamim H. ShaikhHakon H Hakonarson

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Abstract

We present a database of copy number variations (CNVs) detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, comprised mainly of Caucasians (65.2%) and African-Americans (34.2%), was analyzed for CNVs in a single study u...read more

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Online Mendelian Inheritance In Man
Gene Dosage
Single Nucleotide Polymorphism
Molecular Diagnostics; Reverse Transcription
Genome
Gene Duplication
African Continental Ancestry Group
Molecular Diagnostics (Lab Procedure)
Cdna Microarrays
Genome Mapping
210
1
Paper Details
References
  • References30
  • Citations213
12345...

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications

Genome Research

Sep 1, 2009

Tamim H. ShaikhHakon H Hakonarson

PMID: 19592680

DOI: 10.1101/gr.083501.108

Abstract

We present a database of copy number variations (CNVs) detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, comprised mainly of Caucasians (65.2%) and African-Americans (34.2%), was analyzed for CNVs in a single study u...read more

Mentioned in this Paper

Online Mendelian Inheritance In Man
Gene Dosage
Single Nucleotide Polymorphism
Molecular Diagnostics; Reverse Transcription
Genome
210
1
Paper Details
References
  • References30
  • Citations213
12345...

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