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List of works by Gonçalo Abecasis

52 Genetic Loci Influencing Myocardial Mass

scientific article

A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration

scientific article

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

scientific article published on 24 March 2017

A Mixed-Effects Model for Powerful Association Tests in Integrative Functional Genomics.

scientific article published in May 2018

A Sardinian founder mutation in glycoprotein Ib platelet subunit beta(GP1BB) that impacts thrombocytopenia

scientific article published on 20 November 2020

A Scalable Bayesian Method for Integrating Functional Information in Genome-wide Association Studies

scientific article

A comparison of approaches to account for uncertainty in analysis of imputed genotypes

scientific article

A comparison of phasing algorithms for trios and unrelated individuals

scientific article

A cross-platform analysis of 14,177 expression quantitative trait loci derived from lymphoblastoid cell lines

scientific article published on 23 January 2013

A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis

scientific article

A general test of association for quantitative traits in nuclear families

scientific article

A genome-wide association analysis of serum iron concentrations

scientific article

A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation

scientific article

A genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012

A genome-wide association study on African-ancestry populations for asthma

scientific article published on 11 November 2009

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

scientific article

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

scientific article published on 21 December 2015

A likelihood-based framework for variant calling and de novo mutation detection in families

scientific article

A note on exact tests of Hardy-Weinberg equilibrium

scientific article

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

scientific article published on 23 November 2016

A second generation human haplotype map of over 3.1 million SNPs

scientific article

AbCD: arbitrary coverage design for sequencing-based genetic studies

scientific article published on 28 January 2013

Abstract 2190: Fine-mapping of common genetic variants associated with colorectal tumor risk identified potential functional variants

Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease

scientific article

Amelioration of Sardinian beta0 thalassemia by genetic modifiers

scientific article

An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans

scientific article published on 31 May 2017

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

scientific article published on 17 May 2012

An alternative to the search for single polymorphisms: toward molecular personality scales for the five-factor model

scientific article

An efficient comprehensive search algorithm for tagSNP selection using linkage disequilibrium criteria

scientific article published on 3 November 2005

An evaluation of the replicate pool method: quick estimation of genome-wide linkage peakp-values

scientific article published on 01 May 2006

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

scientific article

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

scientific article published on 28 November 2012

Assessment of the psoriatic transcriptome in a large sample: additional regulated genes and comparisons with in vitro models

scientific article

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study ⬇️

scientific article published on 23 February 2017

Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation

Association between quantitative traits underlying asthma and the HLA-DRB1 locus in a family-based population sample

article

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

scientific article published on 14 January 2019

Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent

scientific article published on July 2010

Author Correction: Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

scientific article published on 18 September 2020

Biological, clinical and population relevance of 95 loci for blood lipids

scientific article

Blood pressure loci identified with a gene-centric array

scientific article

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

scientific article

COL4A1 is associated with arterial stiffness by genome-wide association scan

scientific article

Characterization of ADME gene variation in 21 populations by exome sequencing

scientific article published on 15 December 2016

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

scientific article

Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots

scientific article published on 18 February 2003

Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci

scientific journal article

Common genetic variation in the 3'-BCL11B gene desert is associated with carotid-femoral pulse wave velocity and excess cardiovascular disease risk: the AortaGen Consortium

scientific article published on 8 November 2011

Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations

scientific article

Common variants associated with plasma triglycerides and risk for coronary artery disease

scientific article

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

scientific article

Common variants at 30 loci contribute to polygenic dyslipidemia

scientific article

Common variants at ten loci modulate the QT interval duration in the QTSCD Study

scientific article

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

scientific article

Common variants near MC4R are associated with fat mass, weight and risk of obesity

scientific article

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype

scientific article published on 13 January 2012

Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

scientific article published on 14 September 2020

Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes

scientific article published on 04 August 2008

Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution.

scientific article published on 27 July 2009

Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

scientific article published on 23 August 2017

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scholarly article published in Nature Genetics

Defining the role of common variation in the genomic and biological architecture of adult human height

scientific article

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

scientific article

Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data

scientific article

Discovery and refinement of loci associated with lipid levels

scientific article

Discovery of common and rare genetic risk variants for colorectal cancer

scientific article published on 03 December 2018

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

scientific article published on 24 August 2020

E2-2 protein and Fuchs's corneal dystrophy

scientific journal article

Efficient study designs for test of genetic association using sibship data and unrelated cases and controls

scientific article

Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans

scientific article published on 11 September 2009

Enhanced genetic maps from family-based disease studies: population-specific comparisons

scientific article

Erratum: Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

scientific article published in Nature

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article published in November 2011

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article published in May 2010

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 23 January 2018

Erratum: Whole-genome sequence-based analysis of thyroid function

scientific article published on 20 May 2015

Estimating the power of variance component linkage analysis in large pedigrees

scientific article published in September 2006

Estimation of DNA contamination and its sources in genotyped samples

scientific article published on 26 August 2019

Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies

scientific article published on 12 September 2011

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

scientific article (publication date: 6 July 2012)

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

scientific article

Exome chip meta-analysis fine maps causal variants and elucidates the genetic architecture of rare coding variants in smoking and alcohol use

scientific article published on 06 December 2018

Exome sequencing and complex disease: practical aspects of rare variant association studies

scientific article

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

scientific article

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

article by Jason Flannick et al published 22 May 2019 in Nature

Exome-wide association study of plasma lipids in >300,000 individuals

scientific article published on 30 October 2017

Exploring and visualizing large-scale genetic associations by using PheWeb

scientific article published on 01 June 2020

Extent and distribution of linkage disequilibrium in three genomic regions

scientific article

FTO genotype is associated with phenotypic variability of body mass index

scientific article published on 16 September 2012

Family-based association tests for genomewide association scans

scientific article

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

scientific article (publication date: 22 July 2012)

Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants

scientific article

Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

scientific article published on 08 October 2018

Functional gene group analysis reveals a role of synaptic heterotrimeric G proteins in cognitive ability

scientific article

GENOME: a rapid coalescent-based whole genome simulator

scientific article published on 25 April 2007

GWAS GUI: graphical browser for the results of whole-genome association studies with high-dimensional phenotypes

scientific article

GWAS meta-analysis (N=279,930) identifies new genes and functional links to intelligence

article

Gene expression in skin and lymphoblastoid cells: Refined statistical method reveals extensive overlap in cis-eQTL signals

scientific article

Gene polymorphism in Netherton and common atopic disease

scientific article (publication date: October 2001)

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scientific article published on 17 September 2018

Genetic analysis of over one million people identifies 535 novel loci for blood pressure

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

scientific article

Genetic association study of age-related macular degeneration in the Spanish population

scientific article published on 25 November 2010

Genetic associations of nonsynonymous exonic variants with psychophysiological endophenotypes

scientific article

Genetic evidence of assortative mating in humans

article

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

scientific article

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

scientific article published on 13 June 2018

Genetic loci influencing kidney function and chronic kidney disease

scientific article

Genetic studies of body mass index yield new insights for obesity biology

scientific article

Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits

scientific article published on October 2007

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

article

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

scientific article published on 6 October 2011

Genetic variants influencing circulating lipid levels and risk of coronary artery disease

scientific article published on 23 September 2010

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

scientific article (2010)

Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma

scientific article (publication date: 26 July 2007)

Genetic variation in the 22q11 locus and susceptibility to schizophrenia

scientific article

Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture

scientific article

Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations.

scientific article published in May 2009

Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development

scientific article published on 27 December 2017

Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course

scientific article published on 12 May 2013

Genome-wide analysis yields new loci associating with aortic valve stenosis

scientific article published on 7 March 2018

Genome-wide association analysis identifies three psoriasis susceptibility loci

scientific journal article

Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence

article

Genome-wide association scan for five major dimensions of personality

scientific article

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

scientific article published in June 2009

Genome-wide association study and meta-analysis of intraocular pressure

scientific article published on 04 September 2013

Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2

scientific article

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

scientific article published on 16 October 2011

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

scientific article

Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels

scientific article

Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci

scientific article

Genome-wide association study of PR interval

scientific article

Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study

scientific article

Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations

scientific article

Genome-wide detection and characterization of positive selection in human populations

scientific article

Genome-wide linkage analysis of a composite index of neuroticism and mood-related scales in extreme selected sibships

scientific article published on 6 September 2004

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

scientific article

Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locus at REL

scientific journal article

Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

scientific article published on 27 April 2017

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

scientific article

Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1

scientific article

Genomic variation in a global village: report of the 10th annual Human Genome Variation Meeting 2008.

scientific article published on July 2009

Genotype calling and haplotyping in parent-offspring trios

scientific article

Genotype imputation

scientific article (publication date: 2009)

Genotype-based matching to correct for population stratification in large-scale case-control genetic association studies

scientific article published on September 2009

Genotype-imputation accuracy across worldwide human populations

scientific article published on February 2009

Global gene expression analysis reveals evidence for decreased lipid biosynthesis and increased innate immunity in uninvolved psoriatic skin

scientific article published on 02 July 2009

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project

scientific article

Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers

scientific article

Heritability of cardiovascular and personality traits in 6,148 Sardinians

scientific article

Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis

scientific article published in February 2007

Hundreds of variants clustered in genomic loci and biological pathways affect human height

scientific article

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

scientific article published in June 2007

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

scientific article

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

scientific article

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

scientific article published on 15 September 2013

Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease

scientific article

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

scientific article

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.

scientific article published on 12 September 2017

In search of rare variants: preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypes

scientific article

In silico method for inferring genotypes in pedigrees

scientific article

Inactivating mutations in NPC1L1 and protection from coronary heart disease

scientific article

Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers

scientific article

Increasing the power and efficiency of disease-marker case-control association studies through use of allele-sharing information

scientific article

Inflammation in the pathogenesis of age-related macular degeneration

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

scientific article published on 14 October 2020

Joint modeling of linkage and association: identifying SNPs responsible for a linkage signal

scientific article

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

scientific article published in December 2015

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

scientific article

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

scientific article published in November 2015

Linkage disequilibrium: ancient history drives the new genetics

scientific article

LocusZoom: regional visualization of genome-wide association scan results

scientific article (publication date: 15 September 2010)

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

scientific article published on 18 June 2014

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

scientific article published on April 2011

Mapping complex disease traits with global gene expression

scientific article

Meta-analysis and imputation refines the association of 15q25 with smoking quantity

scientific article

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article

Meta-analysis of 32 genome-wide linkage studies of schizophrenia.

scientific article published on 30 December 2008

Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium

scientific article published on 11 September 2015

Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder

scientific article

Meta-analysis of gene-level tests for rare variant association

scientific article published on 15 December 2013

Meta-analysis of genome scans of age-related macular degeneration

scientific article published on 29 June 2005

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

scientific article

Meta-analysis of genome-wide association studies for personality.

scientific article published on 21 December 2010

Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque

scientific article published on 11 September 2011

Meta-analysis of genome-wide association studies identifies common variants in CTNNA2 associated with excitement-seeking.

scientific article

Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci

scientific article published on 07 January 2019

Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants

scientific article

Molecular dissection of psoriasis: integrating genetics and biology

scientific article published on 08 October 2009

Multiple Loci within the major histocompatibility complex confer risk of psoriasis

scientific article published on 14 August 2009

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa

scientific article

Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology

scientific article published on 28 March 2022

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article

New genetic loci link adipose and insulin biology to body fat distribution

scientific article

New models of collaboration in genome-wide association studies: the Genetic Association Information Network

scientific article (publication date: September 2007)

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

scientific article

Next-generation genotype imputation service and methods

scientific article published on 29 August 2016

Nogo Receptor 1 (RTN4R) as a candidate gene for schizophrenia: analysis using human and mouse genetic approaches

scientific article

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

scientific article

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

scientific article

Omics-squared: human genomic, transcriptomic and phenotypic data for genetic analysis workshop 19.

scientific article

PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data

scientific article

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

article

Pedigree tests of transmission disequilibrium

article

Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function

scientific article published on June 2008

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

scientific article (publication date: 11 August 2012)

Positional cloning of a novel gene influencing asthma from chromosome 2q14.

scientific article

Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma

scientific article

Positive association to IgE levels and a physical map of the 13q14 atopy locus

scientific article

Powerful regression-based quantitative-trait linkage analysis of general pedigrees

scientific article published on 05 July 2002

Predictive Accuracy of a Clinical and Genetic Risk Model for Atrial Fibrillation

scientific article

Prosaposin is a regulator of progranulin levels and oligomerization

scientific article published on 30 June 2016

Protein tyrosine phosphatase gene PTPN22 polymorphism in psoriasis: lack of evidence for association

scientific article published in August 2005

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

scientific article

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 22 December 2017

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

article

Psoriasis bench to bedside: genetics meets immunology

scientific article published on April 2009

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scholarly article published in Nature Genetics

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

erratum

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 16 March 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 01 July 2019

Quantitative trait linkage analysis using Gaussian copulas

scientific article

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

scientific article

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Rare nonsynonymous exonic variants in addiction and behavioral disinhibition

scientific article published on 04 October 2013

Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project

scientific article published on 13 January 2016

Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs

scientific article published on 8 October 2014

Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease

scientific journal article

Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions

scientific article published on 05 December 2012

Regression-Based Sib Pair Linkage Analysis for Binary Traits

article

Replicating genotype-phenotype associations

scientific article (publication date: 7 June 2007)

Response to Graffelman: Tests of Hardy-Weinberg Equilibrium

SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits ⬇️

scientific article published on 24 October 2012

Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene

scientific article

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 19 December 2017

Sequence features in regions of weak and strong linkage disequilibrium

scientific article

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

scientific article published on 6 March 2019

Seven new loci associated with age-related macular degeneration

scientific article

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

scientific article

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

scientific article

Some properties of a variance components model for fine-mapping quantitative trait loci

scientific article

Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration

scientific article

The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts

scientific article

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

The Sequence Alignment/Map format and SAMtools

scientific article (publication date: 15 August 2009)

The benefits of using genetic information to design prevention trials

scientific article published on 28 March 2013

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

The genetic association between personality and major depression or bipolar disorder. A polygenic score analysis using genome-wide association data

scientific article

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

scientific article

The molecular genetic architecture of self-employment

scientific article

The power to detect linkage disequilibrium with quantitative traits in selected samples

scientific article

Toll-like Receptor Polymorphisms and Age-Related Macular Degeneration

Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration

scientific article

Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms

scientific article published on 23 February 2016

Transcriptome analysis and molecular signature of human retinal pigment epithelium

scientific article

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scientific article

Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium

scientific article published on 12 October 2020

Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration

scientific article

Using haplotype blocks to map human complex trait loci

scientific article (publication date: March 2003)

Using sex-averaged genetic maps in multipoint linkage analysis when identity-by-descent status is incompletely known

scientific article published in July 2006

Variance components linkage analysis with repeated measurements

scientific article

Variants in MTNR1B influence fasting glucose levels

scientific article

Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people

scientific article

Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels

scientific article

Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants

scientific article published on 14 October 2020

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

scientific article

Whole-genome sequence-based analysis of thyroid function.

scientific article

Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases

scientific article

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