Gonçalo R. Abecasis

发表

GOLD-Graphical Overview of Linkage Disequilibrium

Gonçalo R. Abecasis, W. O. C. Cookson, G. Abecasis, 2000, Bioinform..

GAS Power Calculator: web-based power calculator for genetic association studies

Gonçalo R. Abecasis, Jennifer Li Johnson, G. Abecasis, 2017, bioRxiv.

The All of Us Research Program Researcher Portal: Innovative access to Unprecendented Data

Paul A. Harris, Joshua C. Denny, Gonçalo R. Abecasis, 2017, AMIA.

Unified representation of genetic variants

Gonçalo R. Abecasis, Hyun Min Kang, Adrian Tan, 2015, Bioinform..

fastMitoCalc: an ultra‐fast program to estimate mitochondrial DNA copy number from whole‐genome sequences

Yong Qian, Gonçalo R. Abecasis, Thomas J. Butler, 2017, Bioinform..

LocusZoom: regional visualization of genome-wide association scan results

Michael Boehnke, Gonçalo R. Abecasis, Tanya M. Teslovich, 2010, Bioinform..

AbCD: arbitrary coverage design for sequencing-based genetic studies

Zheng Xu, Yun Li, Jian Kang, 2013, Bioinform..

A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease

Mark I. McCarthy, Philippe Froguel, Paul Elliott, 2011, Nature Genetics.

emeraLD: Rapid Linkage Disequilibrium Estimation with Massive Data Sets

Michael Boehnke, Gonçalo R. Abecasis, Christian Fuchsberger, 2018, bioRxiv.

METAL: fast and efficient meta-analysis of genomewide association scans

Yun Li, Gonçalo R. Abecasis, Cristen J. Willer, 2010, Bioinform..

Supplementary Material 6

Jianxin Shi, Mark I. McCarthy, Karen L. Mohlke, 2014 .

The variant call format and VCFtools

Gonçalo R. Abecasis, Richard Durbin, Stephen T. Sherry, 2011, Bioinform..

Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries

Brian E. Cade, Thomas W. Blackwell, Yan Gao, 2020, bioRxiv.

LASER server: ancestry tracing with genotypes or sequence reads

Michael Boehnke, Lukas Forer, Sebastian Schönherr, 2017, Bioinform..

The Molecular Genetic Architecture of Self-Employment

Christian Gieger, Paul Scheet, Rauli Svento, 2013, PloS one.

RAREMETAL: fast and powerful meta-analysis for rare variants

Shuang Feng, Dajiang Liu, Xiaowei Zhan, 2014, Bioinform..

Minimac2: Faster Genotype Imputation

Gonçalo R. Abecasis, Christian Fuchsberger, David A. Hinds, 2015, Bioinform..

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

Wei Chen, Gonçalo R. Abecasis, Liming Liang, 2009, Bioinform..

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

Gonçalo R. Abecasis, Janis E. Wigginton, G. Abecasis, 2005, Bioinform..

GRR: graphical representation of relationship errors

Lon R. Cardon, Gonçalo R. Abecasis, W. O. C. Cookson, 2001, Bioinform..

Reference-based phasing using the Haplotype Reference Consortium panel

Lukas Forer, Gonçalo R. Abecasis, Richard Durbin, 2016 .

A fast and accurate algorithm to test for binary phenotypes and its application to PheWAS

Seunggeun Lee, Rounak Dey, Gonçalo R. Abecasis, 2017, bioRxiv.

Algorithmic improvements in gene mapping

Gonçalo R. Abecasis, Yu Zhao, G. Abecasis, 2005 .

Comparing variant calling algorithms for target-exon sequencing in a large sample

Matthew R. Nelson, Gonçalo R. Abecasis, Hyun Min Kang, 2015, BMC Bioinformatics.

Imputation of coding variants in African Americans: better performance using data from the exome sequencing project

Yun Li, Goo Jun, Dana C. Crawford, 2013, Bioinform..

Proper Conditional Analysis in the Presence of Missing Data Identified Novel Independently Associated Low Frequency Variants in Nicotine Dependence Genes

Yu Jiang, Michael Boehnke, Kenneth S. Krauter, 2017 .

Graphical algorithm for integration of genetic and biological data: proof of principle using psoriasis as a model

Gonçalo R. Abecasis, Lam C. Tsoi, James T. Elder, 2015, Bioinform..

emeraLD: Rapid Linkage Disequilibrium Estimation with Massive Data Sets

Gonçalo R. Abecasis, Christian Fuchsberger, Daniel Taliun, 2018 .

RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data

Xiaowei Zhan, Gonçalo R. Abecasis, Dajiang J. Liu, 2016, Bioinform..

Bioinformatics Original Paper an Efficient Comprehensive Search Algorithm for Tagsnp Selection Using Linkage Disequilibrium Criteria

Zhaohui S. Qin, Gonçalo R. Abecasis, Shyam Gopalakrishnan, 2022 .

Imputation aware tag SNP selection to improve power for multi-ethnic association studies

Michael Boehnke, Gonçalo R. Abecasis, Christian Fuchsberger, 2017, bioRxiv.

GENOME: a rapid coalescent-based whole genome simulator

Gonçalo R. Abecasis, Sebastian Zöllner, Liming Liang, 2007, Bioinform..

A fast and accurate algorithm to test for binary phenotypes and its application to PheWAS

Seunggeun Lee, Rounak Dey, Gonçalo R. Abecasis, 2017, bioRxiv.

The Sequence Alignment/Map format and SAMtools

Gonçalo R. Abecasis, Richard Durbin, Heng Li, 2009, Bioinform..

Discovery and Refinement Supplementary

Christian Gieger, Cisca Wijmenga, Inês Barroso, 2015 .

LocusZoom.js: interactive and embeddable visualization of genetic association study results

Gonçalo R. Abecasis, Daniel Taliun, Ryan P. Welch, 2021, Bioinform..

FIVEx: an interactive eQTL browser across public datasets

Gonçalo R. Abecasis, Michael Boehnke, Alan M. Kwong, 2021, Bioinform..

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

Matti Pirinen, Christian Gieger, Peter Donnelly, 2012 .

Genetic Risk Prediction — Are We There Yet?

Karen L. Mohlke, Gonçalo R. Abecasis, Michael Boehnke, 2009 .

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

Gonçalo R. Abecasis, Simon Heath, Ivo G. Gut, 2007, Nature.

Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Ability

Gonçalo R. Abecasis, L. Niels Cornelisse, Danielle Posthuma, 2010, American journal of human genetics.

A Likelihood-Based Framework for Variant Calling and De Novo Mutation Detection in Families

Wei Chen, Gonçalo R. Abecasis, Carlo Sidore, 2012, PLoS genetics.

Some Properties of a Variance Components Model for Fine-Mapping Quantitative Trait Loci

Lon R. Cardon, Gonçalo R. Abecasis, G. Abecasis, 2000, Behavior genetics.

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

Margaret A. Pericak-Vance, Nirubol Tosakulwong, Emily Y. Chew, 2010, Proceedings of the National Academy of Sciences.

Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels.

Gonçalo R. Abecasis, Danish Saleheen, Nilesh J. Samani, 2016, Journal of the American College of Cardiology.

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia

Gonçalo R. Abecasis, Stuart H. Orkin, Ramaiah Nagaraja, 2008, Proceedings of the National Academy of Sciences.

Genome-Wide Association Study of Plasma Polyunsaturated Fatty Acids in the InCHIANTI Study

Luigi Ferrucci, Gonçalo R. Abecasis, Jian Shen, 2009, PLoS genetics.

A Genome-Wide Association Scan on the Levels of Markers of Inflammation in Sardinians Reveals Associations That Underpin Its Complex Regulation

Paul Scheet, Gonçalo R. Abecasis, James Strait, 2012, PLoS genetics.

Rare Nonsynonymous Exonic Variants in Addiction and Behavioral Disinhibition

Gonçalo R. Abecasis, William G. Iacono, Matt McGue, 2014, Biological Psychiatry.

Exploring Various Polygenic Risk Scores for Basal Cell Carcinoma, Cutaneous Squamous Cell Carcinoma and Melanoma in the Phenomes of the Michigan Genomics Initiative and the UK Biobank

Bhramar Mukherjee, Gonçalo R. Abecasis, Stephanie E. Moser, 2018 .

Edinburgh Research Explorer Genome-wide association scan meta-analysis identifies three loci influencing adiposity and fat distribution

Laura J. Scott, Christian Gieger, Yurii S. Aulchenko, 2022 .

Comprehensive Association Study of Type 2 Diabetes and Related Quantitative Traits With 222 Candidate Genes

Laura J. Scott, Karen L. Mohlke, Gonçalo R. Abecasis, 2008, Diabetes.

Erratum to: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits : (Nature Genetics, (2018), 50, 10, (1412-1425), 10.1038/s41588-018-0205-x)

Christian Gieger, Ian J. Deary, He Gao, 2018 .

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

Laura J. Scott, Christian Gieger, Yurii S. Aulchenko, 2009, PLoS Genetics.

A first-generation linkage disequilibrium map of human chromosome 22

Lon R. Cardon, Andres Metspalu, David Beare, 2002, Nature.

A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration

Gonçalo R. Abecasis, Anand Swaroop, Wei Chen, 2007, Proceedings of the National Academy of Sciences.

Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools

Gonçalo R. Abecasis, Hyun Min Kang, Thomas J. Butler, 2015, PLoS genetics.

Linkage Disequilibrium: Ancient History Drives the New Genetics

Thomas E. Nichols, Debashis Ghosh, Gonçalo R. Abecasis, 2005, Human Heredity.

Genome-wide association study of PR interval

Christian Gieger, Thomas Meitinger, Jan A. Kors, 2010, Nature Genetics.

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

Peter Donnelly, Lon R. Cardon, Ellen M. Wijsman, 2007 .

Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk

He Zhang, Gonçalo R. Abecasis, Subramaniam Pennathur, 2014, Nature Genetics.

Bivariate Analysis of Age-Related Macular Degeneration Progression Using Genetic Risk Scores

Qi Yan, Ying Ding, Richard J. Cook, 2017, Genetics.

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

Brian E. Cade, Zachary A. Szpiech, Shannon Kelly, 2019, Nature.

Genome-Wide Association Scan of Trait Depression

Luigi Ferrucci, Gonçalo R. Abecasis, David Schlessinger, 2010, Biological Psychiatry.

Exploring Various Polygenic Risk Scores for Skin Cancer in the Phenomes of the Michigan Genomics Initiative and the UK Biobank with a Visual Catalog: PRSWeb

Bhramar Mukherjee, Gonçalo R. Abecasis, Stephanie E. Moser, 2018, bioRxiv.

Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration

Alexis Battle, Emily Y. Chew, Nilanjan Chatterjee, 2019, Nature Genetics.

Mitogenome Diversity in Sardinians: A Genetic Window onto an Island's Past

Vittorio Mazzarello, Gonçalo R. Abecasis, Carlo Sidore, 2017, Molecular biology and evolution.

Fine Mapping of Five Loci Associated with Low-Density Lipoprotein Cholesterol Detects Variants That Double the Explained Heritability

Gonçalo R. Abecasis, Anne U. Jackson, Carlo Sidore, 2011, PLoS genetics.

Pervasive Sharing of Genetic Effects in Autoimmune Disease

Kasper Lage, Gonçalo R. Abecasis, John A. Todd, 2011, PLoS genetics.