Human genetic variation and its contribution to complex traits (Q29614580)

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23 January 2020

review article

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title

Human genetic variation and its contribution to complex traits (English)

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30 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19293820 AND SRC:MED&resulttype=core&format=json

23 January 2020

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23 January 2020

Eric J. Topol

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4

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23 January 2020

3

Nicholas J Schork

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23 January 2020

author name string

Sarah S Murray

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2

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23 January 2020

language of work or name

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30 April 2017

publication date

1 April 2009

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23 January 2020

published in

Nature Reviews Genetics

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30 April 2017

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23 January 2020

volume

10

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30 April 2017

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23 January 2020

issue

4

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30 April 2017

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23 January 2020

page(s)

241-251

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Initial sequencing and analysis of the human genome

23 January 2020

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Detection of large-scale variation in the human genome

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Global variation in copy number in the human genome

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Mapping and sequencing of structural variation from eight human genomes

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Accurate whole human genome sequencing using reversible terminator chemistry

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Genome-wide association studies for complex traits: consensus, uncertainty and challenges

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Structural variation in the human genome

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The population genetics of structural variation

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Genetic mapping in human disease

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Progress and challenges in genome-wide association studies in humans

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The road to genome-wide association studies

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Evolutionary Rate at the Molecular Level

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Near-neutrality in evolution of genes and gene regulation

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Variation is the spice of life

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Linkage disequilibrium--understanding the evolutionary past and mapping the medical future

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Evaluating coverage of genome-wide association studies

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Power to detect risk alleles using genome-wide tag SNP panels

31 March 2020

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Evaluating and improving power in whole-genome association studies using fixed marker sets.

31 March 2020

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Conjuring SNPs to detect associations

31 March 2020

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Fine-scale structural variation of the human genome

31 March 2020

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

31 March 2020

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

31 March 2020

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Genome assembly comparison identifies structural variants in the human genome.

31 March 2020

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

31 March 2020

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

31 March 2020

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Copy-number variation and association studies of human disease

31 March 2020

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Major changes in our DNA lead to major changes in our thinking

31 March 2020

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

31 March 2020

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

31 March 2020

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Common deletions and SNPs are in linkage disequilibrium in the human genome

31 March 2020

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Common deletion polymorphisms in the human genome.

31 March 2020

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Integrated detection and population-genetic analysis of SNPs and copy number variation

31 March 2020

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Genotype, haplotype and copy-number variation in worldwide human populations

31 March 2020

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Recent segmental duplications in the human genome

31 March 2020

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

31 March 2020

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The allelic architecture of human disease genes: common disease-common variant... or not?

31 March 2020

1 reference

Are rare variants responsible for susceptibility to complex diseases?

31 March 2020

1 reference

On the allelic spectrum of human disease

31 March 2020

1 reference

The new genomics: global views of biology

31 March 2020

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Population genetics--making sense out of sequence

31 March 2020

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Rare variant hypothesis for multifactorial inheritance: susceptibility to colorectal adenomas as a model

31 March 2020

1 reference

Common and rare variants in multifactorial susceptibility to common diseases

31 March 2020

1 reference

How to interpret a genome-wide association study

31 March 2020

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What can genome-wide association studies tell us about the genetics of common disease?

31 March 2020

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Guilt beyond a reasonable doubt

31 March 2020

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Genome-wide association studies: a new window into immune-mediated diseases

31 March 2020

1 reference

Genome-wide association studies provide new insights into type 2 diabetes aetiology

31 March 2020

1 reference

Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion

31 March 2020

1 reference

A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk

31 March 2020

1 reference

Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis

31 March 2020

1 reference

Risk alleles for multiple sclerosis identified by a genomewide study

31 March 2020

1 reference

The human disease network

31 March 2020

1 reference

Autoimmune diseases: insights from genome-wide association studies

31 March 2020

1 reference

A common allele on chromosome 9 associated with coronary heart disease

31 March 2020

1 reference

Genomewide association analysis of coronary artery disease

31 March 2020

1 reference

A common variant on chromosome 9p21 affects the risk of myocardial infarction

31 March 2020

1 reference

The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm

31 March 2020

1 reference

A common variant associated with prostate cancer in European and African populations

31 March 2020

1 reference

Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men.

31 March 2020

1 reference

Mapping complex disease traits with global gene expression

31 March 2020

1 reference

Worldwide population differentiation at disease-associated SNPs

31 March 2020

1 reference

A genome-wide association study identifies novel risk loci for type 2 diabetes

31 March 2020

1 reference

Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels

31 March 2020

1 reference

A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants

31 March 2020

1 reference

Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes

31 March 2020

1 reference

HapMap tagSNP transferability in multiple populations: general guidelines

31 March 2020

1 reference

Replicating genotype-phenotype associations

31 March 2020

1 reference

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

31 March 2020

1 reference

Recurrent 16p11.2 microdeletions in autism

31 March 2020

1 reference

Structural variation of chromosomes in autism spectrum disorder

31 March 2020

1 reference

Large recurrent microdeletions associated with schizophrenia

31 March 2020

1 reference

Rare chromosomal deletions and duplications increase risk of schizophrenia

31 March 2020

1 reference

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

31 March 2020

1 reference

Male-pattern baldness susceptibility locus at 20p11.

31 March 2020

1 reference

SLCO1B1 variants and statin-induced myopathy--a genomewide study

31 March 2020

1 reference

Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus

31 March 2020

1 reference

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

31 March 2020

1 reference

Two newly identified genetic determinants of pigmentation in Europeans

31 March 2020

1 reference

Genetic determinants of hair, eye and skin pigmentation in Europeans

31 March 2020

1 reference

A genomewide association study of skin pigmentation in a South Asian population

31 March 2020

1 reference

A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease

31 March 2020

1 reference

Complement factor H polymorphism in age-related macular degeneration

31 March 2020

1 reference

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma

31 March 2020

1 reference

A common variant of HMGA2 is associated with adult and childhood height in the general population

31 March 2020

1 reference

Common variants in the GDF5-UQCC region are associated with variation in human height

31 March 2020

1 reference

Genome-wide association analysis identifies 20 loci that influence adult height

31 March 2020

1 reference

Identification of ten loci associated with height highlights new biological pathways in human growth

31 March 2020

1 reference

Many sequence variants affecting diversity of adult human height

31 March 2020

1 reference

Reaching new heights: insights into the genetics of human stature

31 March 2020

1 reference

Newly identified loci that influence lipid concentrations and risk of coronary artery disease

31 March 2020

1 reference

Common variants at 30 loci contribute to polygenic dyslipidemia

31 March 2020

1 reference

Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas

31 March 2020

1 reference

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

31 March 2020

1 reference

A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

31 March 2020

1 reference

Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.

31 March 2020

1 reference

The prevalence of folate-remedial MTHFR enzyme variants in humans

31 March 2020

1 reference

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

31 March 2020

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Genetic variation in laboratory mice

31 March 2020

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Mouse models of human genetic disease: which mouse is more like a man?

31 March 2020

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Taking stock of complex trait genetics in mice

31 March 2020

1 reference

Genetic architecture of complex traits: large phenotypic effects and pervasive epistasis

31 March 2020

1 reference

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration

31 March 2020

1 reference

CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration

31 March 2020

1 reference

Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis

31 March 2020

1 reference

Genetic variation in an individual human exome

31 March 2020

1 reference

Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium

31 March 2020

1 reference

A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection

31 March 2020

1 reference

Genome-wide association analysis of metabolic traits in a birth cohort from a founder population

31 March 2020

1 reference

Challenges and standards in integrating surveys of structural variation

31 March 2020

1 reference

A common inversion under selection in Europeans

31 March 2020

1 reference

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

31 March 2020

1 reference

A variant in CDKAL1 influences insulin response and risk of type 2 diabetes

31 March 2020

1 reference

A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity

31 March 2020

1 reference

The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase

31 March 2020

1 reference

Variants in MTNR1B influence fasting glucose levels

31 March 2020

1 reference

Dissection of complex genetic disease: implications for orthopaedics.

31 March 2020

1 reference

Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant

31 March 2020

1 reference

Two variants on chromosome 17 confer prostate cancer risk and the one in TCF2 protects against type 2 diabetes

31 March 2020

1 reference

Multiple loci identified in a genome-wide association study of prostate cancer

31 March 2020

1 reference

The influence of genetic background on spontaneous and genetically engineered mouse models of complex diseases

31 March 2020

1 reference

12 December 2020

Completing the map of human genetic variation

1 reference

12 December 2020

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts

1 reference

12 December 2020

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

1 reference

12 December 2020

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30 April 2017

Consolidated OpenCitations Corpus – April 2017

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Dimensions Publication ID

23 January 2020

1011407465

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30 April 2017

Consolidated OpenCitations Corpus – April 2017