Daniel G MacArthur

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. pmc Challenges in clinical genomics
    Daniel G MacArthur
    Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA
    Genome Med 4:43. 2012
  2. pmc A systematic survey of loss-of-function variants in human protein-coding genes
    Daniel G MacArthur
    Wellcome Trust Sanger Institute, Hinxton, UK
    Science 335:823-8. 2012
  3. doi request reprint The uncertain road towards genomic medicine
    Daniel G MacArthur
    Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA
    Trends Genet 28:303-5. 2012
  4. pmc Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes
    Jacqueline K White
    Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
    Cell 154:452-64. 2013
  5. pmc Mapping copy number variation by population-scale genome sequencing
    Ryan E Mills
    Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Nature 470:59-65. 2011

Detail Information

Publications5

  1. pmc Challenges in clinical genomics
    Daniel G MacArthur
    Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA
    Genome Med 4:43. 2012
    ..A report on the Genomic Disorders 2012: Genomics of Rare Diseases meeting, Hinxton, UK, 21-23 March 2012...
  2. pmc A systematic survey of loss-of-function variants in human protein-coding genes
    Daniel G MacArthur
    Wellcome Trust Sanger Institute, Hinxton, UK
    Science 335:823-8. 2012
    ..We describe functional and evolutionary differences between LoF-tolerant and recessive disease genes and a method for using these differences to prioritize candidate genes found in clinical sequencing studies...
  3. doi request reprint The uncertain road towards genomic medicine
    Daniel G MacArthur
    Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA
    Trends Genet 28:303-5. 2012
    ..Cheap, high-throughput approaches to generating biological data are transforming biology into a data-driven science and promise to similarly transform medicine. However, the road to genomic medicine is paved with challenges and uncertainty...
  4. pmc Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes
    Jacqueline K White
    Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
    Cell 154:452-64. 2013
    ..Phenotypic data and more than 900 mutants are openly available for further analysis. PAPERCLIP: ..
  5. pmc Mapping copy number variation by population-scale genome sequencing
    Ryan E Mills
    Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Nature 470:59-65. 2011
    ..Our analytical framework and SV map serves as a resource for sequencing-based association studies...