The fine-scale and complex architecture of human copy-number variation
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Web-based, participant-driven studies yield novel genetic associations for common traitsDeficiency of the cytoskeletal protein SPECC1L leads to oblique facial cleftingTIARA: a database for accurate analysis of multiple personal genomes based on cross-technologyGenomic drift and copy number variation of chemosensory receptor genes in humans and miceNucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint libraryUltraconserved elements: analyses of dosage sensitivity, motifs and boundariesHuman molecular cytogenetics: From cells to nucleotidesElusive copy number variation in the mouse genomeComplex and multi-allelic copy number variation in human diseaseComparative analysis of copy number variation detection methods and database constructionConsensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesPEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing dataMeiotic recombination generates rich diversity in NK cell receptor genes, alleles, and haplotypesHuman DHX9 helicase unwinds triple-helical DNA structuresCharacterizing complex structural variation in germline and somatic genomesGenome-wide mapping and assembly of structural variant breakpoints in the mouse genomeHuman genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease.Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.Simultaneous copy number losses within multiple subtelomeric regions in early-onset type 2 diabetes mellitusThe human genome puzzle - the role of copy number variation in somatic mosaicismSmall deletion variants have stable breakpoints commonly associated with alu elements.Functional copy-number alterations in cancer.Copy number variations (CNVs) identified in Korean individuals.High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution.Association tests and software for copy number variant data.A flexible rank-based framework for detecting copy number aberrations from array data.CCL3L Copy number variation and the co-evolution of primate and viral genomes.A new classification method using array Comparative Genome Hybridization data, based on the concept of Limited Jumping Emerging Patterns.A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and reviewMolecular cytogenetics and cytogenomics of brain diseases.Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertensionHigh-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.Integrating sequencing technologies in personal genomics: optimal low cost reconstruction of structural variantsIdentification of copy number variants defining genomic differences among major human groupsEarly embryonic chromosome instability results in stable mosaic pattern in human tissuesIdentification of copy number variations and common deletion polymorphisms in cattle.Copy number variation in the bovine genomeCNstream: a method for the identification and genotyping of copy number polymorphisms using Illumina microarrays.A classification model for distinguishing copy number variants from cancer-related alterations.An initial map of chromosomal segmental copy number variations in the chicken
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The fine-scale and complex architecture of human copy-number variation
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 24 January 2008
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vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
The fine-scale and complex architecture of human copy-number variation
@en
The fine-scale and complex architecture of human copy-number variation.
@nl
type
label
The fine-scale and complex architecture of human copy-number variation
@en
The fine-scale and complex architecture of human copy-number variation.
@nl
prefLabel
The fine-scale and complex architecture of human copy-number variation
@en
The fine-scale and complex architecture of human copy-number variation.
@nl
P2093
P2860
P1476
The fine-scale and complex architecture of human copy-number variation
@en
P2093
Alicia Scheffer
Amir Ben-Dor
Anya Tsalenko
Charles Lee
Charles W Tran
George H Perry
Han Soo Park
Israel Steinfeld
Jeong-Sun Seo
Laia Rodriguez-Revenga
P2860
P304
P356
10.1016/J.AJHG.2007.12.010
P407
P50
P577
2008-01-24T00:00:00Z