Jacob O Kitzman

Summary

Publications

  1. pmc Haplotype-resolved genome sequencing of a Gujarati Indian individual
    Jacob O Kitzman
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Biotechnol 29:59-63. 2011
  2. pmc Noninvasive fetal genome sequencing: a primer
    Matthew W Snyder
    Department of Genome Sciences, University of Washington, Seattle, WA, USA
    Prenat Diagn 33:547-54. 2013
  3. pmc Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions
    Joshua N Burton
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Biotechnol 31:1119-25. 2013
  4. 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
  5. pmc Massively Parallel Functional Analysis of BRCA1 RING Domain Variants
    Lea M Starita
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195
    Genetics 200:413-22. 2015
  6. pmc Experimental Evolution Identifies Vaccinia Virus Mutations in A24R and A35R That Antagonize the Protein Kinase R Pathway and Accompany Collapse of an Extragenic Gene Amplification
    Greg Brennan
    Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA
    J Virol 89:9986-97. 2015
  7. doi request reprint Haplotype-resolved genome sequencing: experimental methods and applications
    Matthew W Snyder
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
    Nat Rev Genet 16:344-58. 2015
  8. pmc Noninvasive whole-genome sequencing of a human fetus
    Jacob O Kitzman
    Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Sci Transl Med 4:137ra76. 2012
  9. pmc Diversity of human copy number variation and multicopy genes
    Peter H Sudmant
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA
    Science 330:641-6. 2010
  10. pmc In vitro, long-range sequence information for de novo genome assembly via transposase contiguity
    Andrew Adey
    Department of Genome Sciences, University of Washington, Seattle, Washington 98115, USA
    Genome Res 24:2041-9. 2014

Detail Information

Publications14

  1. pmc Haplotype-resolved genome sequencing of a Gujarati Indian individual
    Jacob O Kitzman
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Biotechnol 29:59-63. 2011
    ..This method also facilitates the analysis of structural variation, for example, to anchor novel insertions to specific locations and haplotypes...
  2. pmc Noninvasive fetal genome sequencing: a primer
    Matthew W Snyder
    Department of Genome Sciences, University of Washington, Seattle, WA, USA
    Prenat Diagn 33:547-54. 2013
    ....
  3. pmc Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions
    Joshua N Burton
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Biotechnol 31:1119-25. 2013
    ..Hi-C data can also be used to validate chromosomal translocations in cancer genomes...
  4. 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...
  5. pmc Massively Parallel Functional Analysis of BRCA1 RING Domain Variants
    Lea M Starita
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195
    Genetics 200:413-22. 2015
    ..We envision that massively parallel functional assays may facilitate the prospective interpretation of variants observed in clinical sequencing. ..
  6. pmc Experimental Evolution Identifies Vaccinia Virus Mutations in A24R and A35R That Antagonize the Protein Kinase R Pathway and Accompany Collapse of an Extragenic Gene Amplification
    Greg Brennan
    Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA
    J Virol 89:9986-97. 2015
    ....
  7. doi request reprint Haplotype-resolved genome sequencing: experimental methods and applications
    Matthew W Snyder
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
    Nat Rev Genet 16:344-58. 2015
    ....
  8. pmc Noninvasive whole-genome sequencing of a human fetus
    Jacob O Kitzman
    Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Sci Transl Med 4:137ra76. 2012
    ....
  9. pmc Diversity of human copy number variation and multicopy genes
    Peter H Sudmant
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA
    Science 330:641-6. 2010
    ..Our approach makes ~1000 genes accessible to genetic studies of disease association...
  10. pmc In vitro, long-range sequence information for de novo genome assembly via transposase contiguity
    Andrew Adey
    Department of Genome Sciences, University of Washington, Seattle, Washington 98115, USA
    Genome Res 24:2041-9. 2014
    ..Finally, we demonstrate CPT-seq as a means of anchoring unplaced novel human contigs to the reference genome as well as for detecting misassembled sequences...
  11. pmc Adaptive gene amplification as an intermediate step in the expansion of virus host range
    Greg Brennan
    Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America
    PLoS Pathog 10:e1004002. 2014
    ....
  12. pmc Poxviruses deploy genomic accordions to adapt rapidly against host antiviral defenses
    Nels C Elde
    Division of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
    Cell 150:831-41. 2012
    ....
  13. pmc Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition
    Andrew Adey
    Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Genome Biol 11:R119. 2010
    ..We also extend its capabilities by developing protocols for sub-nanogram library construction, exome capture from 50 ng of input DNA, PCR-free and colony PCR library construction, and 96-plex sample indexing...
  14. pmc Massively parallel single-amino-acid mutagenesis
    Jacob O Kitzman
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Methods 12:203-6, 4 p following 206. 2015
    ..9% coverage) and human tumor suppressor p53 (93.5%). PALS-based comprehensive missense mutational scans may aid structure-function studies, protein engineering, and the interpretation of variants identified by clinical sequencing. ..