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Detection of clinically relevant exonic copy-number changes by array CGH

Human Mutation

Dec 1, 2010

Philip M BoonePaweł Stankiewicz

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Abstract

Array comparative genomic hybridization (aCGH) is a powerful tool for the molecular elucidation and diagnosis of disorders resulting from genomic copy-number variation (CNV). However, intragenic deletions or duplications--those including genomic intervals of a size smaller than a gene--...read more

Mentioned in this Paper

Chromosome Breakpoint Sequence
Genome
Sequence Determinations, DNA
Phenotype Determination
DNA Copy Number Changes
Array-Based Comparative Genomic Hybridization
Mini-Exon
Exons
Base Pairing
Candidate Gene Identification
Paper Details
References
  • References90
  • Citations125
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Detection of clinically relevant exonic copy-number changes by array CGH

Human Mutation

Dec 1, 2010

Philip M BoonePaweł Stankiewicz

PMID: 20848651

DOI: 10.1002/humu.21360

Abstract

Array comparative genomic hybridization (aCGH) is a powerful tool for the molecular elucidation and diagnosis of disorders resulting from genomic copy-number variation (CNV). However, intragenic deletions or duplications--those including genomic intervals of a size smaller than a gene--...read more

Mentioned in this Paper

Chromosome Breakpoint Sequence
Genome
Sequence Determinations, DNA
Phenotype Determination
DNA Copy Number Changes

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Paper Details
References
  • References90
  • Citations125
12345...

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