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Showing 201–244 of 244 results

Advanced filters: Author: Goncalo R Abecasis Clear advanced filters

Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis

Genome-wide association meta-analyses among 1.4 million individuals identify 318 new risk loci for type 2 diabetes and provide insight into the contribution of these risk variants to diabetes-related vascular outcomes.

Marijana Vujkovic
Jacob M. Keaton
Danish Saleheen
Research15 Jun 2020
Nature Genetics

Volume: 52, P: 680-691
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

Exome sequence analysis of nearly 10,000 people was carried out to identify alleles associated with early-onset myocardial infarction; mutations in low-density lipoprotein receptor (LDLR) or apolipoprotein A-V (APOA5) were associated with disease risk, identifying the key roles of low-density lipoprotein cholesterol and metabolism of triglyceride-rich lipoproteins.

Ron Do
Nathan O. Stitziel
Sekar Kathiresan
Research10 Dec 2014
Nature

Volume: 518, P: 102-106
Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes

Genome-wide association and genetic risk score analyses highlight differences in genetic architecture across five subtypes of diabetes.

Dina Mansour Aly
Om Prakash Dwivedi
Emma Ahlqvist
Research04 Nov 2021
Nature Genetics

Volume: 53, P: 1534-1542
Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases

Soumya Raychaudhuri, Paul de Bakker and colleagues test the non-additive disease contributions of classical HLA alleles to five common autoimmune diseases. In four of the five diseases, they observe highly significant non-additive dominance and interaction effects.

Tobias L Lenz
Aaron J Deutsch
Soumya Raychaudhuri
Research10 Aug 2015
Nature Genetics

Volume: 47, P: 1085-1090
Reference-based phasing using the Haplotype Reference Consortium panel

Po-Ru Loh, Alkes Price and colleagues present Eagle2, a reference-based phasing algorithm that allows for highly accurate and efficient phasing of genotypes across a broad range of cohort sizes. They demonstrate an approximately 10% improvement in accuracy and 20% improvement in speed compared to a competing method, SHAPEIT2.

Po-Ru Loh
Petr Danecek
Alkes L Price
Research03 Oct 2016
Nature Genetics

Volume: 48, P: 1443-1448
Fine mapping of eight psoriasis susceptibility loci

Sayantan Das
Philip E Stuart
James T Elder
Research03 Sept 2014
European Journal of Human Genetics

Volume: 23, P: 844-853
Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

Evangelos Evangelou
Helen R. Warren
Mark J. Caulfield
Amendments and Corrections14 Nov 2018
Nature Genetics

Volume: 50, P: 1755
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

Analysis of whole-exome sequencing data from over 200,000 individuals in the UK Biobank provides new insights into the contribution of rare variants to cardiometabolic diseases and traits.

Sean J. Jurgens
Seung Hoan Choi
Patrick T. Ellinor
Research17 Feb 2022
Nature Genetics

Volume: 54, P: 240-250
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies

MetaSTAAR enables functionally informed rare variant association analysis in biobank-scale cohorts using an efficient, sparse matrix approach for summary statistic storage.

Xihao Li
Corbin Quick
Xihong Lin
Research23 Dec 2022
Nature Genetics

Volume: 55, P: 154-164
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

Chris Tyler-Smith, Carlos Bustamante and colleagues report an analysis of 1,244 human Y chromosomes from the 1000 Genomes Project. They find that copy number variants have a higher predicted functional impact than other variant classes and infer bursts of male population expansion corresponding to historical periods of migration and technological innovations.

G David Poznik
Yali Xue
Chris Tyler-Smith
Research25 Apr 2016
Nature Genetics

Volume: 48, P: 593-599
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

The next step after sequencing a genome is to figure out how the cell actually uses it as an instruction manual. A large international consortium has examined 1% of the genome for what part is transcribed, where proteins are bound, what the chromatin structure looks like, and how the sequence compares to that of other organisms.

Ewan Birney
John A. Stamatoyannopoulos
Pieter J. de Jong
Research14 Jun 2007
Nature

Volume: 447, P: 799-816
A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

A high-resolution reference panel based on whole-genome sequencing data enables accurate imputation of HLA alleles across diverse populations and fine-mapping of HLA association signals for HIV-1 host response.

Yang Luo
Masahiro Kanai
Soumya Raychaudhuri
Research05 Oct 2021
Nature Genetics

Volume: 53, P: 1504-1516
Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes

Alexander G. Bick
Joshua S. Weinstock
Pradeep Natarajan
Amendments and Corrections11 Mar 2021
Nature

Volume: 591, P: E27
Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

Muhammad Ansar
Abid Jan
Suzanne M Leal
Research23 Dec 2015
European Journal of Human Genetics

Volume: 24, P: 1223-1227
Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT

A GWAS on the four major iron-related biomarkers is conducted using data from the Trøndelag Health Study (HUNT), Michigan Genomics Initiative (MGI), and SardiNIA study, to identify 123 loci associated with iron homeostasis and effect on all-cause mortality.

Marta R. Moksnes
Sarah E. Graham
Ben M. Brumpton
ResearchOpen Access16 Jun 2022
Communications Biology

Volume: 5, P: 1-13
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Valérie Turcot
Yingchang Lu
Ruth J. F. Loos
Amendments and Corrections03 Jun 2019
Nature Genetics

Volume: 51, P: 1191-1192
Genetic evidence of assortative mating in humans

Using whole-genome data for single-nucleotide polymorphism and results from genome-wide association studies, the authors show that people’s preference for pairing with those with similar phenotypic traits has genetic causes and consequences.

Matthew R. Robinson
Aaron Kleinman
Peter M. Visscher
Research09 Jan 2017
Nature Human Behaviour

Volume: 1, P: 1-13
A first update on mapping the human genetic architecture of COVID-19

Gita A. Pathak
Juha Karjalainen
J. Kenneth Baillie
ResearchOpen Access03 Aug 2022
Nature

Volume: 608, P: E1-E10
Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability

Vasiliki Lagou
Reedik Mägi
Inga Prokopenko
Amendments and CorrectionsOpen Access08 Feb 2021
Nature Communications

Volume: 12, P: 1-2
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Valérie Turcot
Yingchang Lu
Ruth J. F. Loos
Amendments and Corrections16 Mar 2018
Nature Genetics

Volume: 50, P: 766-767
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Valérie Turcot
Yingchang Lu
Ruth J. F. Loos
Amendments and Corrections16 Mar 2018
Nature Genetics

Volume: 50, P: 765-766
Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes

Aimee M. Deaton
Margaret M. Parker
Paul Nioi
ResearchOpen Access03 Nov 2021
Scientific Reports

Volume: 11, P: 1-16
Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci

A. Mesut Erzurumluoglu
Mengzhen Liu
Joanna M. M. Howson
ResearchOpen Access07 Jan 2019
Molecular Psychiatry

Volume: 25, P: 2392-2409
Risk of lymphoid malignancy associated with cancer predisposition genes

Nicholas J. Boddicker
Raphael Mwangi
James R. Cerhan
ResearchOpen Access19 Apr 2025
Blood Cancer Journal

Volume: 15, P: 1-9
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults

A GWAS and exome-wide association study meta-analysis identifies 53 loci affecting hearing loss risk from over half a million individuals across five cohorts. Rare variants in Mendelian hearing loss genes contribute to hearing loss risk in adults.

Kavita Praveen
Lee Dobbyn
Giovanni Coppola
ResearchOpen Access03 Jun 2022
Communications Biology

Volume: 5, P: 1-12
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

Xiaoming Jia
Fernando S. Goes
Laura J. Scott
ResearchOpen Access22 Jan 2021
Molecular Psychiatry

Volume: 26, P: 5239-5250
UGT1A1 genetic variants are associated with increases in bilirubin levels in rheumatoid arthritis patients treated with sarilumab

Nan Lin
Amy Damask
Charles Paulding
ResearchOpen Access11 Feb 2022
The Pharmacogenomics Journal

Volume: 22, P: 160-165
SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits

Osorio D Meirelles
Jun Ding
David Schlessinger
ResearchOpen Access24 Oct 2012
European Journal of Human Genetics

Volume: 21, P: 673-679
The International HapMap Project

Richard A. Gibbs
John W. Belmont
Toshihiro Tanaka
Special Features18 Dec 2003
Nature

Volume: 426, P: 789-796
Common variants near MC4R are associated with fat mass, weight and risk of obesity

Ruth J F Loos
Cecilia M Lindgren
Inês Barroso
Research04 May 2008
Nature Genetics

Volume: 40, P: 768-775
Measuring lung water adds prognostic value in heart failure patients undergoing cardiac magnetic resonance

Bruno M. L. Rocha
Gonçalo J. L. Cunha
António M. Ferreira
ResearchOpen Access11 Oct 2021
Scientific Reports

Volume: 11, P: 1-10
Whole genome sequencing in psychiatric disorders: the WGSPD consortium

Stephan J. Sanders
Benjamin M. Neale
Nelson B. Freimer
Comments & Opinion28 Nov 2017
Nature Neuroscience

Volume: 20, P: 1661-1668
Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project

Mengyuan Kan
Paul L Auer
Suzanne M Leal
Research13 Jan 2016
European Journal of Human Genetics

Volume: 24, P: 1181-1187
Author Correction: Clonal haematopoiesis and risk of chronic liver disease

Waihay J. Wong
Connor Emdin
Pradeep Natarajan
Amendments and Corrections03 Jul 2023
Nature

Volume: 619, P: E47
Genome-wide detection and characterization of positive selection in human populations

Sabeti et al. build on their This paper builds on previous work of detecting selection on human genes, using the many more markers available in the Phase II HapMap project. Three examples of apparent population-specific selection based on geographic area are described, and how these may relate to human biology is discussed.

Pardis C. Sabeti
Patrick Varilly
John Stewart
Research18 Oct 2007
Nature

Volume: 449, P: 913-918
Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Jason Flannick
Christian Fuchsberger
Mark I. McCarthy
Amendments and CorrectionsOpen Access23 Jan 2018
Scientific Data

Volume: 5, P: 1-2
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

The UK Biobank Exome Sequencing Consortium aims to sequence all the exomes of approximately 500,000 UK Biobank participants. This Perspective describes the results from approximately 200,000 exomes and discusses the lessons learned from this UK Biobank–biopharmaceutical company collaboration.

Joseph D. Szustakowski
Suganthi Balasubramanian
Zhan Ye
Reviews28 Jun 2021
Nature Genetics

Volume: 53, P: 942-948
Author Correction: A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

Yang Luo
Masahiro Kanai
Soumya Raychaudhuri
Amendments and Corrections02 Nov 2021
Nature Genetics

Volume: 53, P: 1722
Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Seyedeh M. Zekavat
Sanni Ruotsalainen
Sebastian Zoellner
Amendments and CorrectionsOpen Access23 Aug 2018
Nature Communications

Volume: 9, P: 1-3
Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Seyedeh M. Zekavat
Sanni Ruotsalainen
Sebastian Zoellner
Amendments and CorrectionsOpen Access01 Apr 2020
Nature Communications

Volume: 11, P: 1
A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration

Tobias Strunz
Susette Lauwen
Bernhard H. F. Weber
ResearchOpen Access31 Jan 2020
Scientific Reports

Volume: 10, P: 1-16
Replicating genotype–phenotype associations

What constitutes replication of a genotype–phenotype association, and how best can it be achieved?

Stephen J. Chanock
Teri Manolio
Francis S. Collins
Special Features06 Jun 2007
Nature

Volume: 447, P: 655-660
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Jason Flannick
Christian Fuchsberger
Mark I. McCarthy
ResearchOpen Access19 Dec 2017
Scientific Data

Volume: 4, P: 1-22
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population

Mohsin Shahzad
Sairah Yousaf
Qian Yi
ResearchOpen Access07 Mar 2017
Scientific Reports

Volume: 7, P: 1-15

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