Mark A Depristo

Ontology type: schema:Person     

Person Info


Mark A



Publications in SciGraph latest 50 shown

  • 2017-12-19 Sequence data and association statistics from 12,940 type 2 diabetes cases and controls in SCIENTIFIC DATA
  • 2017-02 A framework for the detection of de novo mutations in family-based sequencing data in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-08 The genetic architecture of type 2 diabetes in NATURE
  • 2016-08 Analysis of protein-coding genetic variation in 60,706 humans in NATURE
  • 2015-02 Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction in NATURE
  • 2014-12 Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel in NATURE COMMUNICATIONS
  • 2014-02 A polygenic burden of rare disruptive mutations in schizophrenia in NATURE
  • 2012-12 Pacific biosciences sequencing technology for genotyping and variation discovery in human data in BMC GENOMICS
  • 2012-11 An integrated map of genetic variation from 1,092 human genomes in NATURE
  • 2012-04-04 Patterns and rates of exonic de novo mutations in autism spectrum disorders in NATURE
  • 2011-12 Next-generation sequencing for HLA typing of class I loci in BMC GENOMICS
  • 2011-09 The functional spectrum of low-frequency coding variation in GENOME BIOLOGY
  • 2011-08 Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction in NATURE GENETICS
  • 2011-07 Variation in genome-wide mutation rates within and between human families in NATURE GENETICS
  • 2011-05 A framework for variation discovery and genotyping using next-generation DNA sequencing data in NATURE GENETICS
  • 2006-03 Is one solution good enough? in NATURE STRUCTURAL & MOLECULAR BIOLOGY
  • 2005-09 Missense meanderings in sequence space: a biophysical view of protein evolution in NATURE REVIEWS GENETICS
  • 2005-01-13 Simultaneous determination of protein structure and dynamics in NATURE
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