Mark J. Daly
- PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
2007/08/08 by Shaun Purcell, Benjamin M. Neale, Benjamin Neale +14 · 856 citations
Biochemistry, Genetics and Molecular Biology · Psychology · #Association (psychology) #Association mapping #Bioinformatics and Genomic Networks #Biology #Computational biology #Computer science #Demography #Evolutionary biology #Gene #Genetic Associations and Epidemiology #Genetic Mapping and Diversity in Plants and Animals #Genetic association #Genetics #Genome-wide association study #Genotype #Linkage (software) #Population #Psychology #Set (abstract data type) #Single-nucleotide polymorphism #Sociology
- Genome sequence, comparative analysis and haplotype structure of the domestic dog
2005/12/01 by Broad Sequencing Platform members, Kerstin Lindblad-Toh, Kerstin Lindblad‐Toh +53 · 57 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Animal Genetics and Reproduction #Chromosomal and Genetic Variations #Genetic Mapping and Diversity in Plants and Animals
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
2011/04/10 by Mark A DePristo, Mark A. DePristo, Eric Banks +25 · 181 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genomics and Phylogenetic Studies #Genomics and Rare Diseases
- The mutational constraint spectrum quantified from variation in 141,456 humans
2020/05/27 by Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao +97 · 196 citations
Biochemistry, Genetics and Molecular Biology · #CRISPR and Genetic Engineering #Genomics and Phylogenetic Studies #Genomics and Rare Diseases
- Integrating common and rare genetic variation in diverse human populations
2010/08/31 by David Altshuler, S. F. Schaffner, Stacey B. Gabriel +57 · 58 citations
Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genomics and Phylogenetic Studies #Genomics and Rare Diseases
- Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
2015/10/01 by Bjarni J. Vilhjálmsson, Bjarni J. Vilhjálmsson, Jian Yang +452 · 59 citations
Biochemistry, Genetics and Molecular Biology · Mathematics · Medicine · #Advanced Causal Inference Techniques #Allele #Artificial intelligence #Bioinformatics and Genomic Networks #Biology #Computer science #Disequilibrium #Genetic Associations and Epidemiology #Genetics #Haplotype #Linkage disequilibrium #Mathematics #Medicine #Pattern recognition (psychology) #Polygenic risk score #Pruning #Sample (material) #Sample size determination #Single-nucleotide polymorphism #Statistics #Thresholding
- A genomic mutational constraint map using variation in 76,156 human genomes
2023/12/06 by Siwei Chen, Laurent C. Francioli, Julia K. Goodrich +254 · 70 citations
Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genomics and Chromatin Dynamics #Genomics and Rare Diseases
- Biological insights from 108 schizophrenia-associated genetic loci
2014/07/01 by Stephan Ripke, B M Neale, Kai-How Farh +97 · 16 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Diabetes and associated disorders #Genetic Associations and Epidemiology #Tryptophan and brain disorders
- A cross-population atlas of genetic associations for 220 human phenotypes
2021/09/30 by Saori Sakaue, Masahiro Kanai, Yosuke Tanigawa +45 · 35 citations
Biochemistry, Genetics and Molecular Biology · #Bioinformatics and Genomic Networks #Gene expression and cancer classification #Genetic Associations and Epidemiology
- Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
2009/07/01 by Shaun Purcell, Jennifer Stone, Pamela Sklar +71 · 12 citations
Biochemistry, Genetics and Molecular Biology · Psychology · #Biology #Bipolar disorder #Cognition #Gene #Genetic Associations and Epidemiology #Genetics #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases #Genotype #Polygenic risk score #Psychiatry #Psychology #Schizophrenia (object-oriented programming) #Single-nucleotide polymorphism #Variation (astronomy)
- Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
2022/08/18 by Jack Fu, Jack M. Fu, F. Kyle Satterstrom +136 · 13 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Autism Spectrum Disorder Research #Congenital heart defects research #Genomic variations and chromosomal abnormalities
- Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland
2019/05/30 by Sini Kerminen, Alicia R. Martin, Jukka Koskela +10 · 29 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Computer science #Disease #Environmental health #Genetic Associations and Epidemiology #Genetic and phenotypic traits in livestock #Genetic architecture #Genetics #Genotype #Identity by descent #Internal medicine #Liver Disease Diagnosis and Treatment #Medicine #Population #Quantitative trait locus #Trait
- The Genome-wide Patterns of Variation Expose Significant Substructure in a Founder Population
2008/12/01 by Eveliina Jakkula, Karola Rehnström, Teppo Varilo +17 · 6 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genetic Mapping and Diversity in Plants and Animals #Genetic and phenotypic traits in livestock
- Genetic architectures of psychiatric disorders: the emerging picture and its implications
2012/07/10 by Patrick F. Sullivan, Mark J. Daly, Michael O‘Donovan +1 · 5 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Autism Spectrum Disorder Research #Genetic Associations and Epidemiology #Genetics and Neurodevelopmental Disorders
- Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders
2019/12/01 by Phil H. Lee, Verneri Anttila, Hyejung Won +628 · 1 voice · 7 citations
Biochemistry, Genetics and Molecular Biology · Psychology · #Genetic Associations and Epidemiology #Genomics and Rare Diseases #Obsessive-Compulsive Spectrum Disorders
- Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
2017/04/01 by Danish Saleheen, Pradeep Natarajan, Irina M. Armean +42 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Cancer-related gene regulation #Genetic Associations and Epidemiology #Genomics and Rare Diseases
- Genetic architecture of complex traits: Large phenotypic effects and pervasive epistasis
2008/12/09 by Haifeng Shao, Lindsay C. Burrage, David S. Sinasac +11 · 1 voice · 1 citation
Biochemistry, Genetics and Molecular Biology · Agricultural and Biological Sciences · #Genetic Mapping and Diversity in Plants and Animals #Genetic and phenotypic traits in livestock #Genetics and Plant Breeding
- Genetic association data are broadly consistent with stabilizing selection shaping human common diseases and traits
2024/06/23 by Evan Koch, Noah J Connally, Nikolas Baya +6 · 1 voice · 3 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology
- Genetic drivers and cellular selection of female mosaic X chromosome loss
2024/06/12 by Aoxing Liu, Giulio Genovese, Yajie Zhao +116 · 1 voice · 3 citations
Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities #Immune Cell Function and Interaction #T-cell and B-cell Immunology
- SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests
2022/09/22 by Wei Zhou, Wenjian Bi, Zhangchen Zhao +6 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases
- Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
2013/08/11 by S Hong Lee, Bryan Mowry, E Byrne +97 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genetics and Neurodevelopmental Disorders #Genomics and Rare Diseases #Biology #Single-nucleotide polymorphism #Genome-wide association study #Genetics #Genome #Computational biology #Gene #Genotype
- SCGB1D2 inhibits growth of Borrelia burgdorferi and affects susceptibility to Lyme disease
2024/03/19 by Satu Strausz, Erik Abner, Grace Blacker +19 · 1 voice · 1 citation
Agricultural and Biological Sciences · Immunology and Microbiology · Medicine · #Insect and Pesticide Research #Vector-borne infectious diseases #Viral Infections and Vectors
- Analysis across Taiwan Biobank, Biobank Japan, and UK Biobank identifies hundreds of novel loci for 36 quantitative traits
2023/11/16 by Chia‐Yen Chen, Tzu‐Ting Chen, Yen‐Chen Anne Feng +12 · 1 voice · 1 citation
Biochemistry, Genetics and Molecular Biology · #Epigenetics and DNA Methylation #Genetic Associations and Epidemiology #Genetic Mapping and Diversity in Plants and Animals
- The genetic architecture of type 2 diabetes
2016/07/11 by Christian Fuchsberger, Jason Flannick, Tanya M. Teslovich +314 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Allele #Allele frequency #Bioinformatics and Genomic Networks #Biology #DNA sequencing #Diabetes mellitus #Epigenetics and DNA Methylation #Exome #Exome sequencing #Gene #Genetic Associations and Epidemiology #Genetic architecture #Genetic association #Genetics #Genome #Genome-wide association study #Genotype #Genotyping #Heritability #Imputation (statistics) #Minor allele frequency #Missing data #Missing heritability problem #Mutation #Quantitative trait locus #Single-nucleotide polymorphism #Type 2 diabetes #Whole genome sequencing
- Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population
2021/06/03 by Perttu J. Liuska, Susanna Lemmelä, Aki S. Havulinna +97 · 1 citation
Medicine · Biochemistry, Genetics and Molecular Biology · Neuroscience · #Glaucoma and retinal disorders #Retinal Development and Disorders #Hearing, Cochlea, Tinnitus, Genetics