(Q36863503)

16 August 2017

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title

Mutational and selective effects on copy-number variants in the human genome (English)

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16 August 2017

Deborah A Nickerson

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16 August 2017

Evan E Eichler

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16 August 2017

Gregory M Cooper

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16 August 2017

language of work or name

English

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publication date

1 July 2007

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16 August 2017

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16 August 2017

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16 August 2017

issue

7 Suppl

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16 August 2017

page(s)

S22-9

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Reconstructing the genomic architecture of mammalian ancestors using multispecies comparative maps

16 August 2017

cites work

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A haplotype map of the human genome

21 January 2018

1 reference

7 January 2021

Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes

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7 January 2021

Automating resequencing-based detection of insertion-deletion polymorphisms

1 reference

7 January 2021

An initial map of insertion and deletion (INDEL) variation in the human genome.

1 reference

7 January 2021

Common deletion polymorphisms in the human genome.

1 reference

7 January 2021

A high-resolution survey of deletion polymorphism in the human genome

1 reference

7 January 2021

Fine-scale structural variation of the human genome

1 reference

7 January 2021

Detection of large-scale variation in the human genome

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7 January 2021

Segmental duplications and copy-number variation in the human genome

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7 January 2021

Large-scale copy number polymorphism in the human genome

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7 January 2021

A comprehensive analysis of common copy-number variations in the human genome

1 reference

7 January 2021

Global variation in copy number in the human genome

1 reference

7 January 2021

Characterization of evolutionary rates and constraints in three Mammalian genomes

1 reference

7 January 2021

Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies

1 reference

7 January 2021

Initial sequence of the chimpanzee genome and comparison with the human genome

1 reference

7 January 2021

A genome-wide survey of structural variation between human and chimpanzee

1 reference

7 January 2021

A genome-wide comparison of recent chimpanzee and human segmental duplications

1 reference

7 January 2021

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

1 reference

7 January 2021

Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes

1 reference

7 January 2021

Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution

1 reference

7 January 2021

Recent segmental duplications in the human genome

1 reference

7 January 2021

A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications

1 reference

7 January 2021

Patterns of Segmental Duplication in the Human Genome

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7 January 2021

GOstat: find statistically overrepresented Gene Ontologies within a group of genes

1 reference

7 January 2021

PANTHER: a library of protein families and subfamilies indexed by function

1 reference

7 January 2021

Bias of selection on human copy-number variants

1 reference

7 January 2021

Structural variation of the human genome

1 reference

7 January 2021

Structural variation in the human genome

1 reference

7 January 2021

A striking organization of a large family of human neural cadherin-like cell adhesion genes

1 reference

7 January 2021

Gene conversion and the evolution of protocadherin gene cluster diversity

1 reference

7 January 2021

Overview of molecular relationships in the voltage-gated ion channel superfamily.

1 reference

7 January 2021

Evolution from fish to mammals by gene duplication

1 reference

7 January 2021

The evolutionary fate and consequences of duplicate genes

1 reference

7 January 2021

Extensive linkage disequilibrium, a common 16.7-kilobase deletion, and evidence of balancing selection in the human protocadherin alpha cluster

1 reference

7 January 2021

Megabase deletions of gene deserts result in viable mice

1 reference

7 January 2021

Extreme genomic variation in a natural population

1 reference

7 January 2021

Initial sequencing and analysis of the human genome

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7 January 2021

Initial sequencing and comparative analysis of the mouse genome

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7 January 2021

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

1 reference

7 January 2021

Genome sequence, comparative analysis and haplotype structure of the domestic dog

1 reference

7 January 2021

Reconstructing the genomic architecture of ancestral mammals: lessons from human, mouse, and rat genomes

1 reference

7 January 2021

Dynamics of mammalian chromosome evolution inferred from multispecies comparative maps

1 reference

7 January 2021

The fragile breakage versus random breakage models of chromosome evolution

1 reference

7 January 2021

Human and mouse genomic sequences reveal extensive breakpoint reuse in mammalian evolution

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7 January 2021

Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16.

1 reference

7 January 2021

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

1 reference

7 January 2021

Hotspots of mammalian chromosomal evolution

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7 January 2021

Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.

1 reference

7 January 2021

The Tre2 (USP6) oncogene is a hominoid-specific gene

1 reference

7 January 2021

Birth of two chimeric genes in the Hominidae lineage.

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7 January 2021

Molecular mechanisms for genomic disorders

1 reference

7 January 2021

Genetics of variation in human color vision and the retinal cone mosaic

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7 January 2021

Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

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7 January 2021

alpha-Synuclein locus triplication causes Parkinson's disease

1 reference

7 January 2021

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

1 reference

7 January 2021

A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon

1 reference

7 January 2021

Hereditary pancreatitis caused by triplication of the trypsinogen locus

1 reference

7 January 2021

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

1 reference

7 January 2021

Strong association of de novo copy number mutations with autism

1 reference

7 January 2021

The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

1 reference

7 January 2021

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

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7 January 2021

Ultraconserved Elements in the Human Genome

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7 January 2021

Mammalian ultraconserved elements are strongly depleted among segmental duplications and copy number variants

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7 January 2021

A global control region defines a chromosomal regulatory landscape containing the HoxD cluster

1 reference

7 January 2021

Scanning Human Gene Deserts for Long-Range Enhancers

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7 January 2021

A common inversion under selection in Europeans

1 reference

7 January 2021

Positive selection of a gene family during the emergence of humans and African apes

1 reference

7 January 2021

Complex genomic rearrangements lead to novel primate gene function

1 reference

7 January 2021

Human lineage-specific amplification, selection, and neuronal expression of DUF1220 domains

1 reference

7 January 2021

Diagnostic genome profiling in mental retardation

1 reference

7 January 2021

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

1 reference

7 January 2021

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

1 reference

7 January 2021

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

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7 January 2021

Identifiers

DOI

10.1038/NG2054

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Dimensions Publication ID

16 August 2017

1023824407

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