Segmental duplications and copy-number variation in the human genome (Q28253048)

4 July 2017

title

Segmental duplications and copy-number variation in the human genome (English)

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4 July 2017

3

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14

Evan E Eichler

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4 July 2017

12

Donna G Albertson

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4 July 2017

6

Rhea U Vallente

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4 July 2017

7

Lisa M Pertz

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4 July 2017

10

Rick Segraves

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4 July 2017

Andrew J Sharp

1

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4 July 2017

Devin P Locke

2

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4 July 2017

Ze Cheng

4

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4 July 2017

Jeffrey A Bailey

5

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4 July 2017

Royden A Clark

8

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4 July 2017

Stuart Schwartz

9

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4 July 2017

Vanessa V Oseroff

11

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4 July 2017

Daniel Pinkel

13

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4 July 2017

publication date

25 May 2005

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American Journal of Human Genetics

4 July 2017

language of work or name

English

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published in

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4 July 2017

volume

77

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4 July 2017

issue

1

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4 July 2017

page(s)

78-88

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Fine-scale structural variation of the human genome

4 July 2017

cites work

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20 March 2017

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Detection of large-scale variation in the human genome

20 March 2017

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Large-scale copy number polymorphism in the human genome

20 March 2017

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Hotspots of mammalian chromosomal evolution

20 March 2017

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Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster

20 March 2017

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Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster

20 March 2017

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The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes

20 March 2017

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Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence

20 March 2017

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Gene copy number regulates the production of the human chemokine CCL3-L1

20 March 2017

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A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14

20 March 2017

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Characterization of the glutathione S-transferase GSTT1 deletion: discrimination of all genotypes by polymerase chain reaction indicates a trimodular genotype-phenotype correlation

20 March 2017

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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

20 March 2017

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Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

20 March 2017

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Recent segmental duplications in the human genome

20 March 2017

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Genome architecture, rearrangements and genomic disorders

7 April 2017

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Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

7 April 2017

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A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture

7 April 2017

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An assessment of the sequence gaps: unfinished business in a finished human genome

29 September 2017

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Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

29 September 2017

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Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

29 September 2017

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Polymorphically duplicated genes: their relevance to phenotypic variation in humans

29 September 2017

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Genome architecture catalyzes nonrecurrent chromosomal rearrangements

29 September 2017

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Large-scale variation among human and great ape genomes determined by array comparative genomic hybridization

29 September 2017

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Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

29 September 2017

1 reference

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Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q

29 September 2017

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Fully automatic quantification of microarray image data

29 September 2017

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Segmental duplications and the evolution of the primate genome

29 September 2017

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Assembly of microarrays for genome-wide measurement of DNA copy number

29 September 2017

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A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

29 September 2017

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Recent duplication, domain accretion and the dynamic mutation of the human genome

29 September 2017

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Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

29 September 2017

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Duplications and defects in the CYP2A6 gene: identification, genotyping, and in vivo effects on smoking

29 September 2017

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Structure of chromosomal duplicons and their role in mediating human genomic disorders

29 September 2017

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Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

29 September 2017

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Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level

29 September 2017

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Ethnic differences of polymorphism of an immunoglobulin VH3 gene

29 September 2017

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Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology

29 September 2017

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Molecular basis of apolipoprotein (a) isoform size heterogeneity as revealed by pulsed-field gel electrophoresis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226196

BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226196

Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications

2 June 2018

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The structure and evolution of centromeric transition regions within the human genome

2 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226196

27 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226196

BAC microarray-based comparative genomic hybridization

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226196

Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements

27 November 2018

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Integration of cytogenetic landmarks into the draft sequence of the human genome

27 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226196

A plea to search for deletion polymorphism through genome scans in populations

27 November 2018

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Unraveling of the polymorphic C lambda 2-C lambda 3 amplification and the Ke+Oz- polymorphism in the human Ig lambda locus

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Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

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Shotgun sequence assembly and recent segmental duplications within the human genome

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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

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Characterization of a Human GlutathioneS-Transferase μ Cluster Containing a DuplicatedGSTM1Gene that Causes Ultrarapid Enzyme Activity

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10-hydroxylation of nortriptyline in white persons with 0, 1, 2, 3, and 13 functional CYP2D6 genes*

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Identifiers

DOI

10.1086/431652

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OpenCitations bibliographic resource ID

4 July 2017

1882726

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

4 July 2017

1 reference