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Genetics
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2026

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Best Scientists

D-Index
247
Citations
447258
World Ranking
52
National Ranking
35

Genetics

D-Index
247
Citations
483847
World Ranking
5
National Ranking
4

Medicine

D-Index
247
Citations
484101
World Ranking
37
National Ranking
28

Research.com Recognitions

  • 2026 - Research.com Genetics in United States Leader Award
  • 2026 - Research.com Medicine in United States Leader Award
  • 2025 - Research.com Best Scientists Award
  • 2025 - Research.com Genetics in United States Leader Award
  • 2025 - Research.com Medicine in United States Leader Award
  • 2024 - Research.com Genetics in United States Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in Finland Leader Award
  • 2023 - Research.com Genetics in United States Leader Award
  • 2023 - Research.com Genetics and Molecular Biology in Finland Leader Award
  • 2022 - Research.com Genetics and Molecular Biology in Finland Leader Award
  • 2017 - Member of the National Academy of Medicine (NAM)
  • 2014 - Curt Stern Award, American Society of Human Genetics

Overview

Mark J. Daly is affiliated with Massachusetts General Hospital in the United States. Their research spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine. The subfields they focus on include Genetics, Molecular Biology, Immunology, Epidemiology, and Surgery.

The main topics in their body of work cover Genetic Associations and Epidemiology, Genomics and Rare Diseases, Epigenetics and DNA Methylation, Genetics and Neurodevelopmental Disorders, Bioinformatics and Genomic Networks, Inflammatory Bowel Disease, and Genomic Variations and Chromosomal Abnormalities.

Mark J. Daly has contributed to a range of significant publications. Notable recent papers include:

  • The mutational constraint spectrum quantified from variation in 141,456 humans (2020, Nature)
  • Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2020, Cell)
  • A cross-population atlas of genetic associations for 220 human phenotypes (2021, Nature Genetics)
  • Mapping the human genetic architecture of COVID-19 (2021, Nature)
  • Genetics of 35 blood and urine biomarkers in the UK Biobank (2021, Nature Genetics)

The scientist frequently collaborates with several colleagues, including Aarno Palotie, Benjamin M. Neale, Mitja Kurki, Konrad J. Karczewski, and Juha Karjalainen.

Mark J. Daly's work has often appeared in several key venues such as:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nature Genetics
  • Nature Communications
  • Nature
  • European Neuropsychopharmacology

Recognition for their contributions includes membership in the National Academy of Medicine awarded in 2017, as well as the Curt Stern Award from the American Society of Human Genetics received in 2014.

Best Publications

  • PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

    Shaun Purcell;Shaun Purcell;Benjamin Neale;Benjamin Neale;Kathe Todd-Brown;Lori Thomas

  • The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

    Aaron Henrik McKenna;Matthew Hanna;Eric Banks;Andrey Sivachenko

  • A global reference for human genetic variation.

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • Haploview: analysis and visualization of LD and haplotype maps

    J. C. Barrett;B. Fry;J. Maller;M. J. Daly

  • A framework for variation discovery and genotyping using next-generation DNA sequencing data

    Mark A DePristo;Eric Banks;Ryan Poplin;Kiran V Garimella

  • Analysis of protein-coding genetic variation in 60,706 humans

    Monkol Lek;Konrad J. Karczewski;Konrad J. Karczewski;Eric V. Minikel;Eric V. Minikel;Kaitlin E. Samocha

  • PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes

    Vamsi K Mootha;Cecilia M Lindgren;Cecilia M Lindgren;Karl-Fredrik Eriksson;Aravind Subramanian

  • Initial sequencing and comparative analysis of the mouse genome.

    Robert H. Waterston;Kerstin Lindblad-Toh;Ewan Birney;Jane Rogers

  • MAPMAKER: An interactive computer package for constructing primary genetic linkage maps of experimental and natural populations

    Eric S. Lander;Eric S. Lander;Philip Green;Jeff Abrahamson;Aaron Barlow

  • The mutational constraint spectrum quantified from variation in 141,456 humans

    Konrad J. Karczewski;Laurent C. Francioli;Grace Tiao;Beryl B. Cummings

  • Biological insights from 108 schizophrenia-associated genetic loci

    Stephan Ripke;Stephan Ripke;Benjamin M. Neale;Benjamin M. Neale;Aiden Corvin;James T. R. Walters

  • The Structure of Haplotype Blocks in the Human Genome

    Stacey B. Gabriel;Stephen F. Schaffner;Huy Nguyen;Jamie M. Moore

  • The International HapMap Project

    John W. Belmont;Paul Hardenbol;Thomas D. Willis;Fuli Yu

  • A haplotype map of the human genome

    John W. Belmont;Andrew Boudreau;Suzanne M. Leal;Paul Hardenbol

  • Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

    Luke Jostins;Stephan Ripke;Rinse K Weersma;Richard H Duerr

  • A second generation human haplotype map of over 3.1 million SNPs

    Kelly A. Frazer;Dennis G. Ballinger;David R. Cox;David A. Hinds

  • LD score regression distinguishes confounding from polygenicity in genome-wide association studies :

    Brendan K Bulik-Sullivan;Po-Ru Loh;Hilary K Finucane;Stephan Ripke

  • Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

    Shaun M. Purcell;Shaun M. Purcell;Naomi R. Wray;Jennifer L. Stone;Jennifer L. Stone;Peter M. Visscher

  • Integrating common and rare genetic variation in diverse human populations

    D M Altshuler;R A Gibbs;L Peltonen

  • The landscape of somatic copy-number alteration across human cancers

    Rameen Beroukhim;Craig H. Mermel;Craig H. Mermel;Dale Porter;Guo Wei

Frequent Co-Authors

Benjamin M. Neale
Benjamin M. Neale Harvard University
Aarno Palotie
Aarno Palotie University of Helsinki
David Altshuler
David Altshuler Harvard University
Stephan Ripke
Stephan Ripke Massachusetts General Hospital
Shaun Purcell
Shaun Purcell Harvard Medical School
John D. Rioux
John D. Rioux University of Montreal
Thomas Werge
Thomas Werge University of Copenhagen
Eric S. Lander
Eric S. Lander Broad Institute
Hailiang Huang
Hailiang Huang Harvard Medical School
Ramnik J. Xavier
Ramnik J. Xavier Broad Institute

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