Author

Mark J Daly

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genomics· 5 Genetics· 4

Signature Assays, Organisms & Methods

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Organism:human· 9 Approach:statistical model· 8 Research Focus:GWAS / association mapping· 5 Assay:whole-exome sequencing· 4 Assay:GWAS summary statistics· 3 Research Focus:gene regulatory network inference· 2 Research Focus:variant calling· 2 Research Focus:benchmarking· 1

Frequent Co-Authors

Benjamin M Neale· 4 shared Kaitlin E Samocha· 4 shared Elise B Robinson· 3 shared Alkes L Price· 2 shared Brendan Bulik-Sullivan· 2 shared Daniel G MacArthur· 2 shared Konrad J Karczewski· 2 shared Pradeep NatarajaniD· 2 shared

Activity by Year

2015-2016 · peak 5/yr

Co-Author Collaboration Network

10 top collaborators · 26 mutual co-author links

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4 shared papersGenetics

Benjamin M Neale

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Author profile →

9 papers

Recent·Most cited

The ExAC Browser: Displaying reference data information from over 60,000 exomes

Konrad J Karczewski, Ben Weisburd, Brett Thomas, Douglas M Ruderfer, David Kavanagh, Tymor Hamamsy, Monkol Lek, Kaitlin E Samocha, Beryl B Cummings, Daniel Birnbaum, The Exome Aggregation Consortium, Mark J Daly, Daniel G MacArthur

The paper introduces an open-source browser for displaying genetic variation data from 60,706 exomes, focusing on variant interpretation and gene function.

Nucleic Acids Research · Nov 28, 2016Peer-reviewedGenomics

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

Andrea Ganna, Giulio Genovese, Daniel P Howrigan, Andrea Byrnes, Mitja Kurki, Seyedeh M Zekavat, Christopher W Whelan, Robert E Handsaker, Mart Kals, Alex Bloemendal, Jonathan M Bloom, Jacqueline I Goldstein, Timothy Poterba, Cotton Seed, Michel G Nivard, , Benjamin M Neale

This study finds that ultra-rare disruptive variants in highly constrained genes are associated with reduced educational attainment in the general population.

bioRxiv · Jun 7, 2016Genetics

A method to exploit the structure of genetic ancestry space to enhance case-control studies

Corneliu A Bodea, Benjamin M Neale, Stephan Ripke, The International IBD Genetics Consortium, Mark J Daly, Bernie Devlin, Kathryn Roeder

This paper introduces a method to improve case-control genetic studies by using ancestry-based statistical tools to estimate allele frequencies without direct access to control data.

bioRxiv · Mar 10, 2016Genomics

Abundant contribution of short tandem repeats to gene expression variation in humans

Melissa Gymrek, Thomas Willems, Haoyang Zeng, Barak Markus, Mark J Daly, Alkes L Price, Jonathan Pritchard, Yaniv Erlich

The paper identifies 2,060 expression STRs (eSTRs) contributing 10%-15% of cis-heritability to gene expression, highlighting their role as regulatory variants.

Nature Genetics · Jan 1, 2016Peer-reviewedGenomics

Polygenic risk for schizophrenia is associated with social cognition across development

Laura Germine, Elise B Robinson, Jordan W Smoller, Monica E Calkins, Tyler M Moore, Hakon Hakonarson, Mark J Daly, Phil H Lee, Avram J Holmes, Randy L Buckner, Ruben C Gur, Raquel E Gur

This study links schizophrenia polygenic risk with reduced social cognition and verbal reasoning in healthy individuals across development.

bioRxiv · Dec 16, 2015Genetics

Human knockouts in a cohort with a high rate of consanguinity

Danesh Saleheen, Pradeep Natarajan, Wei Zhao, Asif Rasheed, Sumeet Khetarpal, Hong-Hee Won, Konrad J Karczewski, Anne H ODonnell-Luria, Kaitlin E Samocha, Namrata Gupta, Mozzam Zaidi, Maria Samuel, Atif Imran, Shahid Abbas, Faisal Majeed, , Sekar Kathiresan

The paper identifies homozygous null mutations in 961 genes in a consanguineous Pakistani cohort and reports their phenotypic consequences.

bioRxiv · Nov 12, 2015Genomics

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

Elise B Robinson, Beate St Pourcain, Verneri Anttila, Jack Kosmicki, Brendan Bulik-Sullivan, Jakob Grove, Julian Maller, Kaitlin E Samocha, Stephan Sanders, Stephan Ripke, Joanna Martin, Mads V Hollegaard, Thomas Werge, David M Hougaard, Benjamin M Neale, , Mark J Daly

The paper identifies genetic links between autism spectrum disorders and typical variation in social behavior and adaptive functioning in the general population.

bioRxiv · Sep 29, 2015Genetics

An Atlas of Genetic Correlations across Human Diseases and Traits

Brendan Bulik-Sullivan, Hilary K Finucane, Verneri Anttila, Alexander Gusev, Felix R Day, ReproGen Consortium, Psychiatric Genomics Consortium, Anorexia Nervosa Genetic Consortium Wellcome Trust Consortium 3, Laramie Duncan, John R.B. Perry, Nick Patterson, Elise Robinson, Mark J Daly, Alkes L Price, Benjamin M Neale

The paper estimates genetic correlations between 25 traits using GWAS summary statistics, identifying correlations like anorexia nervosa with schizophrenia and educational attainment with diseases.

Nature Genetics · Sep 28, 2015Peer-reviewedGenomics

Network analysis of genome-wide selective constraint reveals a gene network active in early fetal brain intolerant of mutation

Jinmyung Choi, Parisa Shooshtari, Kaitlin E Samocha, Mark J Daly, Chris Cotsapas

The paper identifies a gene network under strong selective constraint in early fetal brain development and shows it is enriched for genes mutated in neurological disorders.

bioRxiv · Mar 29, 2015Genetics