Gonçalo R. Abecasis
- Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
2016/04/25 by G. David Poznik, G David Poznik, Yali Xue +56 · 52 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Forensic and Genetic Research #Genomic variations and chromosomal abnormalities
- A global reference for human genetic variation
2015/09/29 by Corresponding authors, Adam Auton, Richard Durbin +90 · 71 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genomics and Rare Diseases #Genomics and Phylogenetic Studies
- Rare-Variant Association Analysis: Study Designs and Statistical Tests
2014/07/01 by Seunggeun Lee, Seunggeung Lee, Gonçalo R. Abecasis +3 · 46 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Computational biology #Computer science #Disease #Gene #Genetic Associations and Epidemiology #Genetic association #Genetics #Genetics and Neurodevelopmental Disorders #Genomics and Rare Diseases #Genotype #Genotyping #Heritability #Imputation (statistics) #Machine learning #Medicine #Missing data #Pathology #Population stratification #Single-nucleotide polymorphism #Trait
- Computationally efficient whole-genome regression for quantitative and binary traits
2021/05/20 by Joelle Mbatchou, Leland Barnard, Joshua Backman +18 · 59 citations
Biochemistry, Genetics and Molecular Biology · Mathematics · #Artificial intelligence #Biobank #Biology #Computational biology #Computer science #Contrast (vision) #Genetic Associations and Epidemiology #Genetic Mapping and Diversity in Plants and Animals #Genetic and phenotypic traits in livestock #Genetics #Genome #Genome-wide association study #Genotype #Machine learning #Mathematics #Population #Regression #Regression analysis #Statistics
- Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny
2013/08/01 by Paolo Francalacci, Laura Morelli, Andrea Angius +36 · 18 citations
Biochemistry, Genetics and Molecular Biology · Arts and Humanities · #Forensic and Genetic Research #Genetic diversity and population structure #Forensic Anthropology and Bioarchaeology Studies #Haplogroup #Phylogenetic tree #Evolutionary biology #Population #Biology #Mitochondrial DNA #Haplotype #DNA sequencing #Y chromosome #Genetics #Ancient DNA #Gene #Demography #Genotype
- Hundreds of variants clustered in genomic loci and biological pathways affect human height
2010/09/29 by Hana Lango Allen, Karol Estrada, Guillaume Lettre +308 · 19 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genetic Mapping and Diversity in Plants and Animals #Genetic and phenotypic traits in livestock
- NSK Software Technologies Ltd.
1998/01/05 by Wenqing Fu, Timothy D. O’Connor, Goo Jun +13 · 6 citations
Biochemistry, Genetics and Molecular Biology · Economics, Econometrics and Finance · #CRISPR and Genetic Engineering #Diverse Scientific and Economic Studies #Genomics and Phylogenetic Studies #Genomics and Rare Diseases
- Population Genomic Analysis of Ancient and Modern Genomes Yields New Insights into the Genetic Ancestry of the Tyrolean Iceman and the Genetic Structure of Europe
2014/05/08 by Martin Sikora, Meredith L. Carpenter, Andrés Moreno‐Estrada +22 · 11 citations
Biochemistry, Genetics and Molecular Biology · #Forensic and Genetic Research #Genetic diversity and population structure #Yersinia bacterium, plague, ectoparasites research #Haplogroup #Biology #Context (archaeology) #Genome #Evolutionary biology #Population #Ancient DNA #Genetics #Genetic variation #Genetic structure #Haplotype #Demography #Genotype #Gene #Paleontology
- Genome-wide association studies for complex traits: consensus, uncertainty and challenges
2008/04/09 by Mark I. McCarthy, Gonçalo R. Abecasis, Lon R. Cardon +4 · 8 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Bioinformatics and Genomic Networks #Biology #Computational biology #Computer science #Data science #Disease #Evolutionary biology #Gene #Genetic Associations and Epidemiology #Genetic architecture #Genetic association #Genetics #Genome-wide association study #Genotype #Medicine #Molecular Biology Techniques and Applications #Phenotype #Single-nucleotide polymorphism
- Complex genetic signatures in immune cells underlie autoimmunity and inform therapy
2020/09/14 by Valeria Orrù, Maristella Steri, Carlo Sidore +26 · 7 citations
Immunology and Microbiology · Medicine · #Chronic Lymphocytic Leukemia Research #Immune Cell Function and Interaction #T-cell and B-cell Immunology
- Genomic history of the Sardinian population
2018/09/07 by Charleston W. K. Chiang, Joseph H. Marcus, Joseph Marcus +17 · 7 citations
Arts and Humanities · Biochemistry, Genetics and Molecular Biology · #Forensic Anthropology and Bioarchaeology Studies #Forensic and Genetic Research #Race, Genetics, and Society
- Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder
2015/05/20 by Marleen H. M. de Moor, Stéphanie M. van den Berg, Karin J. H. Verweij +97 · 4 citations
Biochemistry, Genetics and Molecular Biology · Psychology · Neuroscience · #Genetic Associations and Epidemiology #Personality Disorders and Psychopathology #Neurotransmitter Receptor Influence on Behavior
- Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data
2022/03/01 by Pierrick Wainschtein, Deepti Jain, Zhili Zheng +490 · 3 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genetic Mapping and Diversity in Plants and Animals #Genetic and phenotypic traits in livestock
- Evidence of association ofAPOEwith age-related macular degeneration - a pooled analysis of 15 studies
2011/09/01 by Gareth J. McKay, Chris Patterson, Chris C. Patterson +56 · 1 citation
Medicine · #Glaucoma and retinal disorders #Retinal Diseases and Treatments #Retinal Imaging and Analysis
- Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
2020/08/24 by Xihao Li, Zilin Li, Hufeng Zhou +450 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases
- A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies
2022/10/27 by Zilin Li, Xihao Li, Hufeng Zhou +531 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Bioinformatics and Genomic Networks #Genetic Associations and Epidemiology #Genomics and Rare Diseases
- Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies
2022/12/23 by Xihao Li, Corbin Quick, Hufeng Zhou +448 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Bioinformatics and Genomic Networks #Genetic Associations and Epidemiology #Genomics and Rare Diseases
- Psoriasis Bench to Bedside
2009/04/01 by Rajan P. Nair, Jun Ding, Kristina Callis Duffin +8 · 7 citations
Immunology and Microbiology · Medicine · #Dermatology and Skin Diseases #Family medicine #Medicine #Medicine and Dermatology Studies History #Neurology #Otorhinolaryngology #Psoriasis: Treatment and Pathogenesis #Psychiatry