(Q35060063)

6 August 2017

An optimal weighted aggregated association test for identification of rare variants involved in common diseases (English)

1 reference

6 August 2017

4

Eleazar Eskin

1 reference

6 August 2017

2

Buhm Han

1 reference

6 August 2017

Jae Hoon Sul

1

1 reference

PubMed ID

21368279

6 August 2017

Dan He

series ordinal

3

1 reference

PubMed ID

21368279

6 August 2017

language of work or name

English

0 references

publication date

2 March 2011

1 reference

6 August 2017

8

1 reference

based on heuristic

inferred from page(s)

published in

Genetics

1 reference

6 August 2017

188

1 reference

6 August 2017

1

1 reference

6 August 2017

181-188

1 reference

Pooled association tests for rare variants in exon-resequencing studies

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

Leveraging genetic variability across populations for the identification of causal variants.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

Efficient association study design via power-optimized tag SNP selection

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

Rare chromosomal deletions and duplications increase risk of schizophrenia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

Strong association of de novo copy number mutations with sporadic schizophrenia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

Common and rare variants in multifactorial susceptibility to common diseases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

Increasing power in association studies by using linkage disequilibrium structure and molecular function as prior information

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

EVOLUTION IN MENDELIAN POPULATIONS

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

SIFT: Predicting amino acid changes that affect protein function

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

Are rare variants responsible for susceptibility to complex diseases?

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

Mutation in blood coagulation factor V associated with resistance to activated protein C.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3120154

10.1534/GENETICS.110.125070

27 September 2018

Identifiers

DOI

1 reference

release_ehtjo4djovcmbppnkwtjtsu7qq

6 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ehtjo4djovcmbppnkwtjtsu7qq

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

3120154

1 reference

6 August 2017

1 reference

PubMed ID

21368279