Standout Papers

The Genome Analysis Toolkit: A MapReduce framework for analyzin... 2002 2026 2010 2018 16.8k
  1. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data (2010)
    Aaron McKenna, Matthew G. Hanna et al. Genome Research
  2. A framework for variation discovery and genotyping using next-generation DNA sequencing data (2011)
    Mark A. DePristo, Eric Banks et al. Nature Genetics
  3. The Structure of Haplotype Blocks in the Human Genome (2002)
    Stacey Gabriel, S. F. Schaffner et al. Science
  4. From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline (2013)
    Geraldine Van Der Auwera, Mauricio O. Carneiro et al. Current Protocols in Bioinformatics
  5. Detecting recent positive selection in the human genome from haplotype structure (2002)
    Pardis C. Sabeti, David Reich et al. Nature
  6. Efficiency and power in genetic association studies (2005)
    Paul I. W. de Bakker, Roman Yelensky et al. Nature Genetics
  7. The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes (2000)
    David Altshuler, Joel N. Hirschhorn et al. Nature Genetics
  8. Characterization of single-nucleotide polymorphisms in coding regions of human genes (1999)
    Michele Cargill, David Altshuler et al. Nature Genetics
  9. Association between Microdeletion and Microduplication at 16p11.2 and Autism (2008)
    Lauren A. Weiss, Yiping Shen et al. New England Journal of Medicine
  10. Genetic Mapping in Human Disease (2008)
    David Altshuler, Mark J. Daly et al. Science
  11. Positive Natural Selection in the Human Lineage (2006)
    Pardis C. Sabeti, S. F. Schaffner et al. Science
  12. The Lin28/let-7 Axis Regulates Glucose Metabolism (2011)
    Hao Zhu, Ng Shyh‐Chang et al. Cell
  13. Clinical Risk Factors, DNA Variants, and the Development of Type 2 Diabetes (2008)
    Valeriya Lyssenko, Anna Jonsson et al. New England Journal of Medicine
  14. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants (2012)
    Wenqing Fu, Timothy D. O’Connor et al. Nature
  15. TCF7L2 Polymorphisms and Progression to Diabetes in the Diabetes Prevention Program (2006)
    José C. Florez, Kathleen A. Jablonski et al. New England Journal of Medicine
  16. Copy number variation: New insights in genome diversity (2006)
    Jennifer L. Freeman, George H. Perry et al. Genome Research
  17. Errα and Gabpa/b specify PGC-1α-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle (2004)
    Vamsi K. Mootha, Christoph Handschin et al. Proceedings of the National Academy of Sciences
  18. Assessing the impact of population stratification on genetic association studies (2004)
    Matthew L. Freedman, David Reich et al. Nature Genetics
  19. An SNP map of the human genome generated by reduced representation shotgun sequencing (2000)
    David Altshuler, Jennifer Baldwin et al. Nature
  20. Common deletion polymorphisms in the human genome (2005)
    Steven A. McCarroll, Tracy N. Hadnott et al. Nature Genetics
  21. 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
  22. Inaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants (2023)
    Ogo Egbuna, Brandon Zimmerman et al. New England Journal of Medicine

Immediate Impact

5 by Nobel laureates 55 from Science/Nature 113 standout
Sub-graph 1 of 16

Citing Papers

The UK Biobank resource with deep phenotyping and genomic data
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6 intermediate papers

Works of David Altshuler being referenced

From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline
2013 Standout
A framework for variation discovery and genotyping using next-generation DNA sequencing data
2011 Standout
and 6 more

Author Peers

Author Last Decade Papers Cites
David Altshuler 29936 29072 3052 6982 148 62.4k
Gonçalo R. Abecasis 35101 40495 1503 7341 197 85.6k
Andrew P. Feinberg 15391 44543 1743 6693 233 61.5k
Stacey Gabriel 19535 26579 933 10327 98 56.2k
Mark J. Daly 50708 38945 2754 7915 359 102.1k
Frederick Sanger 19367 60983 1926 2811 75 88.4k
Steve Horvath 10762 42656 1006 8104 437 67.8k
Alan Coulson 19123 57886 1620 2698 53 84.4k
Pak C. Sham 23739 16074 2031 3046 688 60.3k
Prescott L. Deininger 19915 62191 1414 3281 196 98.0k
Francis S. Collins 12917 30338 1353 4553 412 59.7k

All Works

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2026