Joseph B Hiatt

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. pmc Parallel, tag-directed assembly of locally derived short sequence reads
    Joseph B Hiatt
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Methods 7:119-22. 2010
  2. pmc The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line
    Andrew Adey
    Department of Genome Sciences, University of Washington, Seattle, Washington 98115, USA
    Nature 500:207-11. 2013
  3. pmc Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation
    Joseph B Hiatt
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
    Genome Res 23:843-54. 2013
  4. pmc Activity-enhancing mutations in an E3 ubiquitin ligase identified by high-throughput mutagenesis
    Lea M Starita
    Howard Hughes Medical Institute, Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 110:E1263-72. 2013
  5. pmc Capturing native long-range contiguity by in situ library construction and optical sequencing
    Jerrod J Schwartz
    Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 109:18749-54. 2012
  6. pmc PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
    Laura A Jansen
    1 University of Virginia, Neurology, Charlottesville, VA, USA 2 Seattle Children s Research Institute, Centre for Integrative Brain Research, Seattle, WA, USA
    Brain 138:1613-28. 2015
  7. pmc Mammalian X upregulation is associated with enhanced transcription initiation, RNA half-life, and MOF-mediated H4K16 acetylation
    Xinxian Deng
    Department of Pathology, School of Medicine, University of Washington, Seattle, WA 98195, USA
    Dev Cell 25:55-68. 2013
  8. pmc Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
    Brian J O'Roak
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA
    Science 338:1619-22. 2012
  9. pmc Massively parallel functional dissection of mammalian enhancers in vivo
    Rupali P Patwardhan
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Biotechnol 30:265-70. 2012

Collaborators

Detail Information

Publications9

  1. pmc Parallel, tag-directed assembly of locally derived short sequence reads
    Joseph B Hiatt
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Methods 7:119-22. 2010
    ..Subassembly may facilitate accurate de novo genome assembly and metagenome sequencing...
  2. pmc The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line
    Andrew Adey
    Department of Genome Sciences, University of Washington, Seattle, Washington 98115, USA
    Nature 500:207-11. 2013
    ..These data provide an extensively phased, high-quality reference genome for past and future experiments relying on HeLa, and demonstrate the value of haplotype resolution for characterizing cancer genomes and epigenomes...
  3. pmc Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation
    Joseph B Hiatt
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
    Genome Res 23:843-54. 2013
    ..3%-1.4%), and NRAS p.Q61R (colon, 4.7%). We anticipate that smMIP will be broadly adoptable as a practical and effective method for accurately detecting low-frequency mutations in both research and clinical settings...
  4. pmc Activity-enhancing mutations in an E3 ubiquitin ligase identified by high-throughput mutagenesis
    Lea M Starita
    Howard Hughes Medical Institute, Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 110:E1263-72. 2013
    ..Our results highlight the general utility of high-throughput mutagenesis in delineating the molecular basis of enzyme activity...
  5. pmc Capturing native long-range contiguity by in situ library construction and optical sequencing
    Jerrod J Schwartz
    Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 109:18749-54. 2012
    ....
  6. pmc PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
    Laura A Jansen
    1 University of Virginia, Neurology, Charlottesville, VA, USA 2 Seattle Children s Research Institute, Centre for Integrative Brain Research, Seattle, WA, USA
    Brain 138:1613-28. 2015
    ..Our findings identify PI3K/AKT pathway mutations as an important cause of epileptogenic brain malformations and establish megalencephaly, hemimegalencephaly, and focal cortical dysplasia as part of a single pathogenic spectrum. ..
  7. pmc Mammalian X upregulation is associated with enhanced transcription initiation, RNA half-life, and MOF-mediated H4K16 acetylation
    Xinxian Deng
    Department of Pathology, School of Medicine, University of Washington, Seattle, WA 98195, USA
    Dev Cell 25:55-68. 2013
    ....
  8. pmc Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
    Brian J O'Roak
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA
    Science 338:1619-22. 2012
    ..Our data support associations between specific genes and reciprocal subphenotypes (CHD8-macrocephaly and DYRK1A-microcephaly) and replicate the importance of a β-catenin-chromatin-remodeling network to ASD etiology...
  9. pmc Massively parallel functional dissection of mammalian enhancers in vivo
    Rupali P Patwardhan
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Biotechnol 30:265-70. 2012
    ....