Mark A DePristo

Summary

Publications

  1. pmc The functional spectrum of low-frequency coding variation
    Gabor T Marth
    Department of Biology, Boston College, 140 Commonwealth Avenue, Chestnut Hill, MA 02467, USA
    Genome Biol 12:R84. 2011
  2. pmc Next-generation sequencing for HLA typing of class I loci
    Rachel L Erlich
    Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA
    BMC Genomics 12:42. 2011
  3. pmc A framework for variation discovery and genotyping using next-generation DNA sequencing data
    Mark A DePristo
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA
    Nat Genet 43:491-8. 2011
  4. pmc Efficiency and power as a function of sequence coverage, SNP array density, and imputation
    Jason Flannick
    Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America
    PLoS Comput Biol 8:e1002604. 2012
  5. pmc Pacific biosciences sequencing technology for genotyping and variation discovery in human data
    Mauricio O Carneiro
    Broad Institute of MIT and Harvard, Medical and Population Genetics Program, Cambridge, MA 02141, USA
    BMC Genomics 13:375. 2012
  6. pmc The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
    Aaron McKenna
    Program in Medical and Population Genetics, The Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA
    Genome Res 20:1297-303. 2010
  7. 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

Publications7

  1. pmc The functional spectrum of low-frequency coding variation
    Gabor T Marth
    Department of Biology, Boston College, 140 Commonwealth Avenue, Chestnut Hill, MA 02467, USA
    Genome Biol 12:R84. 2011
    ....
  2. pmc Next-generation sequencing for HLA typing of class I loci
    Rachel L Erlich
    Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA
    BMC Genomics 12:42. 2011
    ..We have coupled this process to a novel HLA calling algorithm to determine the most likely pair of alleles at each locus...
  3. pmc A framework for variation discovery and genotyping using next-generation DNA sequencing data
    Mark A DePristo
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA
    Nat Genet 43:491-8. 2011
    ..We here discuss the application of these tools, instantiated in the Genome Analysis Toolkit, to deep whole-genome, whole-exome capture and multi-sample low-pass (∼4×) 1000 Genomes Project datasets...
  4. pmc Efficiency and power as a function of sequence coverage, SNP array density, and imputation
    Jason Flannick
    Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America
    PLoS Comput Biol 8:e1002604. 2012
    ..Our joint framework informs the use of next-generation sequencing in genome wide association studies and supports development of improved methods for genotype calling...
  5. pmc Pacific biosciences sequencing technology for genotyping and variation discovery in human data
    Mauricio O Carneiro
    Broad Institute of MIT and Harvard, Medical and Population Genetics Program, Cambridge, MA 02141, USA
    BMC Genomics 13:375. 2012
    ..With these potential advantages in mind, we here evaluate the utility of the Pacific Biosciences RS platform for human medical amplicon resequencing projects...
  6. pmc The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
    Aaron McKenna
    Program in Medical and Population Genetics, The Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA
    Genome Res 20:1297-303. 2010
    ....
  7. 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...