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Mark J. Daly

Center for Human GeneticsORCID https://orcid.org/0000-0002-0949-8752
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Top Publications

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
The American Journal of Human Genetics200735,533 citations
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Genome Research201029,447 citations
A global reference for human genetic variation
Nature201519,538 citations
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Nature Genetics201112,243 citations
PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes
Nature Genetics200310,482 citations
Analysis of protein-coding genetic variation in 60,706 humans
Nature201610,243 citations
The mutational constraint spectrum quantified from variation in 141,456 humans
Nature20209,856 citations
The mutational constraint spectrum quantified from variation in 141,456 humans
Nature20209,856 citations
MAPMAKER: An interactive computer package for constructing primary genetic linkage maps of experimental and natural populations
Genomics19876,693 citations
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
Nature Genetics20156,093 citations
An atlas of genetic correlations across human diseases and traits
Nature Genetics20154,591 citations
Partitioning heritability by functional annotation using genome-wide association summary statistics
Nature Genetics20152,993 citations
Genome-wide association studies for common diseases and complex traits
Nature Reviews Genetics20052,867 citations
Clinical use of current polygenic risk scores may exacerbate health disparities
Nature Genetics20192,803 citations
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
Nature Genetics20082,619 citationsCorresponding
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
Nature Genetics20102,560 citations
Identification of common genetic risk variants for autism spectrum disorder
Nature Genetics20192,552 citations
New insights into the genetic etiology of Alzheimer’s disease and related dementias
Nature Genetics20222,354 citations
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
Nature Genetics20132,335 citations
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
Nature Genetics20132,335 citations
A cross-population atlas of genetic associations for 220 human phenotypes
Nature Genetics20212,289 citationsCorresponding
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder
Nature Genetics20182,287 citations
Efficient Control of Population Structure in Model Organism Association Mapping
Genetics20081,948 citations
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations
The American Journal of Human Genetics20171,539 citations
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
The American Journal of Human Genetics20151,472 citations
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
The American Journal of Human Genetics20151,472 citations
A mega-analysis of genome-wide association studies for major depressive disorder
Molecular Psychiatry20121,159 citations
Whole-genome association study of bipolar disorder
Molecular Psychiatry2008704 citations
Testing for an Unusual Distribution of Rare Variants
PLoS Genetics2011598 citationsCorresponding
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
Journal of Medical Genetics2008430 citations