Genomic copy number variation, human health, and disease (Q37522738)

20 August 2017

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title

Genomic copy number variation, human health, and disease (English)

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20 August 2017

1

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20 August 2017

Martin D Tobin

3

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author name string

John A L Armour

series ordinal

2

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20 August 2017

language of work or name

English

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publication date

15 June 2009

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20 August 2017

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20 August 2017

volume

374

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20 August 2017

issue

9686

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20 August 2017

page(s)

340-350

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A second generation human haplotype map of over 3.1 million SNPs

20 August 2017

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Recurrent 16p11.2 microdeletions in autism

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Structural variation of chromosomes in autism spectrum disorder

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Strong association of de novo copy number mutations with autism

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Mapping autism risk loci using genetic linkage and chromosomal rearrangements

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Association between microdeletion and microduplication at 16p11.2 and autism

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Large recurrent microdeletions associated with schizophrenia

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Rare chromosomal deletions and duplications increase risk of schizophrenia

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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

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Psoriasis is associated with increased beta-defensin genomic copy number

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

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7 January 2021

FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

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7 January 2021

Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European A

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7 January 2021

Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen

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

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7 January 2021

African infants' CCL3 gene copies influence perinatal HIV transmission in the absence of maternal nevirapine

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CCL3L1-CCR5 genotype influences durability of immune recovery during antiretroviral therapy of HIV-1-infected individuals

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Systematic assessment of copy number variant detection via genome-wide SNP genotyping

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Extending genome-wide association studies to copy-number variation

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7 January 2021

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

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7 January 2021

Diet and the evolution of human amylase gene copy number variation

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7 January 2021

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

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7 January 2021

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

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Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

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7 January 2021

Relative impact of nucleotide and copy number variation on gene expression phenotypes

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7 January 2021

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7 January 2021

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

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7 January 2021

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

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7 January 2021

Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23

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7 January 2021

Paired-end mapping reveals extensive structural variation in the human genome

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7 January 2021

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

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7 January 2021

Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays

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7 January 2021

PLASQ: a generalized linear model-based procedure to determine allelic dosage in cancer cells from SNP array data

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7 January 2021

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

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7 January 2021

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

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7 January 2021

An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays

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7 January 2021

Unsupervised segmentation of continuous genomic data

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7 January 2021

Copy-number analysis goes more than skin deep

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7 January 2021

The population genetics of the haemoglobinopathies

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7 January 2021

High frequencies of alpha-thalassaemia are the result of natural selection by malaria

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7 January 2021

A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration

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7 January 2021

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome

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7 January 2021

Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration

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7 January 2021

Human beta-defensin-2 functions as a chemotactic agent for tumour necrosis factor-alpha-treated human neutrophils

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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

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7 January 2021

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

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7 January 2021

CCL3L1 and CCL4L1: variable gene copy number in adolescents with and without human immunodeficiency virus type 1 (HIV-1) infection

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7 January 2021

CCL3L1 gene-containing segmental duplications and polymorphisms in CCR5 affect risk of systemic lupus erythaematosus

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7 January 2021

Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis

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7 January 2021

Chromosome 22 deletion syndrome and schizophrenia

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7 January 2021

A tutorial on statistical methods for population association studies

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7 January 2021

What makes a good genetic association study?

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7 January 2021

Challenges and standards in integrating surveys of structural variation

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7 January 2021

Designing candidate gene and genome-wide case-control association studies.

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7 January 2021

Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology

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Clustered environments and randomized genes: a fundamental distinction between conventional and genetic epidemiology

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7 January 2021

Population structure, differential bias and genomic control in a large-scale, case-control association study

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7 January 2021

A robust statistical method for case-control association testing with copy number variation

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7 January 2021

Assessing the probability that a positive report is false: an approach for molecular epidemiology studies

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7 January 2021

Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease

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7 January 2021

10.1016/S0140-6736(09)60249-X

Identifiers

DOI

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20 August 2017

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