In search of low-frequency and rare variants affecting complex traits (Q24618492)

PubMed

genome-wide association study

19 September 2019

1 reference

11 August 2020

1 reference

14 November 2020

multifactorial inheritance

1 reference

18 December 2020

1 reference

25 January 2021

1 reference

3

0 references

Kalliope Panoutsopoulou

series ordinal

1

object named as

Kalliope Panoutsopoulou

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author name string

Kalliope Panoutsopoulou

series ordinal

1

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Ioanna Tachmazidou

series ordinal

2

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language of work or name

English

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publication date

15 October 2013

7 references

30 June 2019

14 September 2019

19 September 2019

11 August 2020

14 November 2020

18 December 2020

25 January 2021

Human Molecular Genetics

7 references

30 June 2019

14 September 2019

19 September 2019

11 August 2020

14 November 2020

18 December 2020

25 January 2021

22

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issue

R1

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page(s)

R16-21

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copyright license

Creative Commons Attribution 3.0 Unported

7 references

30 June 2019

14 September 2019

19 September 2019

11 August 2020

14 November 2020

18 December 2020

An integrated map of genetic variation from 1,092 human genomes

25 January 2021

0 references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

A haplotype map of the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Patterns and rates of exonic de novo mutations in autism spectrum disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Whole-genome sequence-based analysis of high-density lipoprotein cholesterol

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Pooled association tests for rare variants in exon-resequencing studies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Meta-analysis of genome-wide association studies: no efficiency gain in using individual participant data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

A variant in MCF2L is associated with osteoarthritis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Integrating common and rare genetic variation in diverse human populations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

A new multipoint method for genome-wide association studies by imputation of genotypes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Hereditary breast and ovarian cancer susceptibility genes (review).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

The genetics of breast cancer: risk factors for disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

General framework for meta-analysis of rare variants in sequencing association studies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

MASS: meta-analysis of score statistics for sequencing studies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Rare and low frequency variant stratification in the UK population: description and impact on association tests.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

ARIEL and AMELIA: testing for an accumulation of rare variants using next-generation sequencing data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Effect of population stratification analysis on false-positive rates for common and rare variants

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

The functional spectrum of low-frequency coding variation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Rare-variant association testing for sequencing data with the sequence kernel association test

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Promise and pitfalls of the Immunochip

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Replication Strategies for Rare Variant Complex Trait Association Studies via Next-Generation Sequencing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Rare Variant Association Analysis Methods for Complex Traits

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

SNP detection and genotyping from low-coverage sequencing data on multiple diploid samples

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Association screening of common and rare genetic variants by penalized regression

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

A data-adaptive sum test for disease association with multiple common or rare variants

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

An evaluation of statistical approaches to rare variant analysis in genetic association studies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Association tests using kernel-based measures of multi-locus genotype similarity between individuals

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Use of population isolates for mapping complex traits

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Marbled inflation from population structure in gene-based association studies with rare variants

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Differential confounding of rare and common variants in spatially structured populations

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Identification of low-frequency variants associated with gout and serum uric acid levels

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Low-coverage sequencing: implications for design of complex trait association studies

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Next-generation association studies for complex traits

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3782074

Correlation between endothelial function and carotid atherosclerosis in rheumatoid arthritis patients with long-standing disease

30 May 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT376

The emerging landscape of breast cancer susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT376

A de novo paradigm for mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT376

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT376

Increased exonic de novo mutation rate in individuals with schizophrenia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23922232

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT376

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1093/HMG/DDT376

1 reference

1 reference

1 reference

PubMed publication ID

23922232

1 reference