R
Richard K. Wilson
Researcher at Nationwide Children's Hospital
Publications - 501
Citations - 294778
Richard K. Wilson is an academic researcher from Nationwide Children's Hospital. The author has contributed to research in topics: Genome & Gene. The author has an hindex of 173, co-authored 463 publications receiving 260000 citations. Previous affiliations of Richard K. Wilson include University of Washington & St. Jude Children's Research Hospital.
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Journal ArticleDOI
Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders
Daniel C. Koboldt,David E. Larson,Lori S. Sullivan,Sara J. Bowne,Karyn Meltz Steinberg,Jennifer D. Churchill,Aimee C. Buhr,Nathan Nutter,Eric A. Pierce,Susan H. Blanton,George M. Weinstock,Richard K. Wilson,Stephen P. Daiger +12 more
TL;DR: A scoring algorithm is developed to prioritize potential causal variants within a family according to segregation with the phenotype, population frequency, predicted effect, and gene expression in the tissue(s) of interest, and to narrow the search space in families with multiple affected individuals.
Journal ArticleDOI
Sequencing human–gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites
Santhosh Girirajan,Lin Chen,Tina Graves,Tomas Marques-Bonet,Mario Ventura,Catrina Fronick,Lucinda Fulton,Mariano Rocchi,Robert S. Fulton,Richard K. Wilson,Elaine R. Mardis,Evan E. Eichler +11 more
TL;DR: Analysis of 24 synteny breakpoints in the white-cheeked gibbon provides a model for a replication-dependent repair mechanism for double-strand breaks (DSBs) at rearrangement sites and insights into the structure and formation of primate segmental duplications at sites of genomic rearrangements during evolution.
Journal ArticleDOI
Association of Tumor Microenvironment T-cell Repertoire and Mutational Load with Clinical Outcome after Sequential Checkpoint Blockade in Melanoma.
Erik Yusko,Marissa Vignali,Richard K. Wilson,Elaine R. Mardis,F. Stephen Hodi,Christine Horak,Han Chang,David M. Woods,Harlan Robins,Jeffrey S. Weber +9 more
TL;DR: Mutational and neoantigen load, and T-cell infiltrate within the tumor, were associated with outcome of sequential checkpoint inhibition using nivolumab then ipilimumab, but not when ipILimumab was administered before nivlumab.
Journal ArticleDOI
A High-Resolution SNP Array-Based Linkage Map Anchors a New Domestic Cat Draft Genome Assembly and Provides Detailed Patterns of Recombination.
Gang Li,LaDeana W. Hillier,Robert A. Grahn,Aleksey V. Zimin,Victor A. David,Marilyn Menotti-Raymond,Rondo P. Middleton,Steven S. Hannah,Sher L. Hendrickson,Alexey I. Makunin,Stephen J. O'Brien,Patrick Minx,Richard K. Wilson,Leslie A. Lyons,Leslie A. Lyons,Wesley C. Warren,William J. Murphy +16 more
TL;DR: A high-resolution genetic linkage map of the domestic cat genome based on genotyping 453 domestic cats from several multi-generational pedigrees on the Illumina 63K SNP array is described, which describes features of the recombination landscape, including a massive recombination desert that parallels a similar desert on the porcine X chromosome in both size and physical location.
Journal ArticleDOI
The impact of chromosomal translocation locus and fusion oncogene coding sequence in synovial sarcomagenesis.
Kevin B. Jones,Jared J. Barrott,Mingchao Xie,Malay Haldar,Huifeng Jin,Ju Fen Zhu,Michael J. Monument,Timothy L. Mosbruger,Ellen M. Langer,R. L. Randall,Richard K. Wilson,Bradley R. Cairns,Li Ding,Mario R. Capecchi +13 more
TL;DR: A mouse sarcoma model expressing SS18-SSX1 is reported, complementing the authors' prior model, and two possible roles for native SSX2 in synovial sarcomagenesis are explored.