Standout Papers

PLINK: A Tool Set for Whole-Genome Associatio... 1987 2026 2000 2013 21.3k
  1. PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses (2007)
    Shaun Purcell, Benjamin M. Neale et al. The American Journal of Human Genetics
  2. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data (2010)
    Aaron McKenna, Matthew G. Hanna et al. Genome Research
  3. A framework for variation discovery and genotyping using next-generation DNA sequencing data (2011)
    Mark A. DePristo, Eric Banks et al. Nature Genetics
  4. MAPMAKER: An interactive computer package for constructing primary genetic linkage maps of experimental and natural populations (1987)
    Eric S. Lander, Philip Green et al. Genomics
  5. The Structure of Haplotype Blocks in the Human Genome (2002)
    Stacey Gabriel, S. F. Schaffner et al. Science
  6. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies (2015)
    Brendan Bulik‐Sullivan, Po‐Ru Loh et al. Nature Genetics
  7. Parametric and nonparametric linkage analysis: a unified multipoint approach. (1996)
    Leonid Kruglyak, Mark J. Daly et al. PubMed
  8. An atlas of genetic correlations across human diseases and traits (2015)
    Brendan Bulik‐Sullivan, Hilary K. Finucane et al. Nature Genetics
  9. Genome-wide association studies for common diseases and complex traits (2005)
    Joel N. Hirschhorn, Mark J. Daly Nature Reviews Genetics
  10. A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function (2006)
    Stefan Feske, Yousang Gwack et al. Nature
  11. Schizophrenia risk from complex variation of complement component 4 (2016)
    Aswin Sekar, Hon‐Cheong So et al. Nature
  12. Efficiency and power in genetic association studies (2005)
    Paul I. W. de Bakker, Roman Yelensky et al. Nature Genetics
  13. Clinical use of current polygenic risk scores may exacerbate health disparities (2019)
    Alicia R. Martin, Masahiro Kanai et al. Nature Genetics
  14. Efficient Control of Population Structure in Model Organism Association Mapping (2008)
    Hyun Min Kang, Noah Zaitlen et al. Genetics
  15. High-resolution haplotype structure in the human genome (2001)
    Mark J. Daly, John D. Rioux et al. Nature Genetics
  16. Genetic Mapping in Human Disease (2008)
    David Altshuler, Mark J. Daly et al. Science
  17. Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012)
    Patrick F. Sullivan, Mark J. Daly et al. Nature Reviews Genetics
  18. Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations (2017)
    Alicia R. Martin, Christopher R. Gignoux et al. The American Journal of Human Genetics
  19. HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin (2009)
    Ann K. Daly, Peter T. Donaldson et al. Nature Genetics
  20. The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping (1994)
    Johanna Hästbacka, Albert de la Chapelle et al. Cell
  21. Common deletion polymorphisms in the human genome (2005)
    Steven A. McCarroll, Tracy N. Hadnott et al. Nature Genetics
  22. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs (2008)
    Joshua M. Korn, Finny G. Kuruvilla et al. Nature Genetics
  23. The ExAC browser: displaying reference data information from over 60 000 exomes (2016)
    Konrad J. Karczewski, Ben Weisburd et al. Nucleic Acids Research
  24. Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers (2020)
    Nina Mars, Jukka Koskela et al. Nature Medicine
  25. Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies (2019)
    Mashaal Sohail, Robert Maier et al. eLife

Immediate Impact

8 by Nobel laureates 66 from Science/Nature 109 standout
Sub-graph 1 of 20

Citing Papers

Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
A genomic region associated with protection against severe COVID-19 is inherited from Neandertals
2021 StandoutNobel
4 intermediate papers

Works of Mark J. Daly being referenced

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations
2017 Standout
High-resolution haplotype structure in the human genome
2001 Standout
and 3 more

Author Peers

Author Last Decade Papers Cites
Mark J. Daly 50708 38945 8334 14106 359 102.1k
Gonçalo R. Abecasis 35101 40495 6305 12815 197 85.6k
Heng Li 34691 65684 5877 26061 277 117.2k
Richard Durbin 41363 70817 6047 25951 164 126.6k
David Altshuler 29936 29072 4237 6912 148 62.4k
Joseph Sambrook 25639 77894 9580 23978 336 126.0k
Peer Bork 14899 93864 9806 18121 510 140.1k
Rudolf Jaenisch 32767 105873 10368 5191 585 134.8k
Prescott L. Deininger 19915 62191 6553 22388 196 98.0k
Wolfgang Huber 12160 64845 12420 17108 228 105.3k
Pierre Chambon 45125 80127 15675 3322 697 115.9k

All Works

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2026