(Q33847237)

29 July 2017

title

Interpretation of association signals and identification of causal variants from genome-wide association studies (English)

1 reference

genome-wide association study

29 July 2017

main subject

0 references

Hakon Hakonarson

1 reference

29 July 2017

Kai Wang

1 reference

29 July 2017

Ian D Krantz

1 reference

29 July 2017

Samuel P Dickson

1 reference

29 July 2017

Catherine A Stolle

series ordinal

1 reference

29 July 2017

David B Goldstein

series ordinal

1 reference

29 July 2017

language of work or name

English

0 references

publication date

29 April 2010

1 reference

American Journal of Human Genetics

29 July 2017

published in

1 reference

29 July 2017

1 reference

29 July 2017

1 reference

29 July 2017

page(s)

730-742

1 reference

Rare variants create synthetic genome-wide associations

29 July 2017

cites work

1 reference

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5 July 2018

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Genome-wide association study identifies three loci associated with melanoma risk

5 July 2018

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Common vs. rare allele hypotheses for complex diseases

5 July 2018

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Discovery of rare variants via sequencing: implications for the design of complex trait association studies

5 July 2018

1 reference

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Haplotypic background of a private allele at high frequency in the Americas.

5 July 2018

1 reference

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A groupwise association test for rare mutations using a weighted sum statistic

5 July 2018

1 reference

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Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.

5 July 2018

1 reference

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Common variants at 30 loci contribute to polygenic dyslipidemia

5 July 2018

1 reference

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Genetic mapping in human disease

5 July 2018

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Personal genomes: The case of the missing heritability

5 July 2018

1 reference

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Population-based linkage analysis of schizophrenia and bipolar case-control cohorts identifies a potential susceptibility locus on 19q13.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data

5 July 2018

1 reference

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The 'common disease-common variant' hypothesis and familial risks

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Common and rare variants in multifactorial susceptibility to common diseases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

A HapMap harvest of insights into the genetics of common disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Defining the role of the MHC in autoimmunity: a review and pooled analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

The genetic basis of complex traits: rare variants or "common gene, common disease"?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

PLINK: a tool set for whole-genome association and population-based linkage analyses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Estimating risks of common complex diseases across genetic and environmental factors: the example of Crohn disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Improving power in contrasting linkage-disequilibrium patterns between cases and controls.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Simulations provide support for the common disease-common variant hypothesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Contrasting linkage-disequilibrium patterns between cases and controls as a novel association-mapping method

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase

5 July 2018

1 reference

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A map of recent positive selection in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

The complex interplay among factors that influence allelic association.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Detecting recent positive selection in the human genome from haplotype structure

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

The allelic structure of common disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Complex genetic diseases: controversy over the Croesus code

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

On the allelic spectrum of human disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

How many diseases does it take to map a gene with SNPs?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Linkage strategies for genetically complex traits. I. Multilocus models

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Estimating the odds ratios of Crohn disease for the main CARD15/NOD2 mutations using a conditional maximum likelihood method in pedigrees collected via affected family members.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

K(IR)6.2 polymorphism predisposes to type 2 diabetes by inducing overactivity of pancreatic beta-cell ATP-sensitive K(+) channels

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

GENOME: a rapid coalescent-based whole genome simulator

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

Haplotypes produced from rare variants in the promoter and coding regions of angiotensinogen contribute to variation in angiotensinogen levels

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869011

The new genomics: global views of biology

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20434130

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Population genetics--making sense out of sequence

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20434130

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The genetics of inflammatory bowel disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20434130

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.04.003

1 reference

29 July 2017

1 reference

29 July 2017

1 reference