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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
Background mutations in parental cells account for most of the genetic heterogeneity of induced pluripotent stem cells.
Margaret A. Young,David E. Larson,Chiao-Wang Sun,Daniel R. George,Li Ding,Christopher A. Miller,Ling Lin,Kevin M. Pawlik,Ken Chen,Xian Fan,Heather Schmidt,Joelle Kalicki-Veizer,Lisa Cook,Gary W. Swift,Ryan Demeter,Michael C. Wendl,Mark S. Sands,Elaine R. Mardis,Richard K. Wilson,Tim M. Townes,Timothy J. Ley +20 more
TL;DR: Most of the genetic variation in iPSC clones is not caused by reprogramming per se, but is rather a consequence of cloning individual cells, which "captures" their mutational history.
Journal ArticleDOI
The structure and evolution of centromeric transition regions within the human genome
Xinwei She,Julie E. Horvath,Zhaoshi Jiang,Zhaoshi Jiang,Ge Liu,Terrence S. Furey,Laurie A. Christ,Royden A. Clark,Tina Graves,Cassy L. Gulden,Can Alkan,Jeffrey A. Bailey,Cenk Sahinalp,Cenk Sahinalp,Mariano Rocchi,David Haussler,Richard K. Wilson,Webb Miller,Stuart Schwartz,Evan E. Eichler,Evan E. Eichler +20 more
TL;DR: A detailed analysis of the structure and assembly of all human pericentromeric regions (5 megabases) shows a gradient of dwindling transcriptional diversity accompanied by an increasing number of interchromosomal duplications in proximity to the centromere.
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Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation
Joshua C. Bis,Xueqiu Jian,Brian W. Kunkle,Yuning Chen,Kara L. Hamilton-Nelson,William S. Bush,William J Salerno,Daniel Lancour,Yiyi Ma,Alan E. Renton,Edoardo Marcora,John J. Farrell,Yi Zhao,Liming Qu,Shahzad Ahmad,Najaf Amin,Philippe Amouyel,Philippe Amouyel,Philippe Amouyel,Gary W. Beecham,Jennifer E. Below,Dominique Campion,Laura B. Cantwell,Camille Charbonnier,Jaeyoon Chung,Paul K. Crane,Carlos Cruchaga,L. Adrienne Cupples,Jean-François Dartigues,Stéphanie Debette,Jean-François Deleuze,Lucinda Fulton,Stacey Gabriel,Emmanuelle Génin,Richard A. Gibbs,Alison Goate,Benjamin Grenier-Boley,Namrata Gupta,Jonathan L. Haines,Aki S. Havulinna,Aki S. Havulinna,Seppo Helisalmi,Mikko Hiltunen,Daniel P. Howrigan,Daniel P. Howrigan,M. Arfan Ikram,Jaakko Kaprio,Jan Konrad,Amanda B. Kuzma,Eric S. Lander,Mark Lathrop,Terho Lehtimäki,Honghuang Lin,Kari Mattila,Richard Mayeux,Donna M. Muzny,Waleed Nasser,Benjamin M. Neale,Benjamin M. Neale,Kwangsik Nho,Gaël Nicolas,Devanshi Patel,Margaret A. Pericak-Vance,Markus Perola,Markus Perola,Markus Perola,Bruce M. Psaty,Olivier Quenez,Farid Rajabli,Richard Redon,Christiane Reitz,Anne M. Remes,Anne M. Remes,Veikko Salomaa,Chloé Sarnowski,Helena Schmidt,Michael A. Schmidt,Reinhold Schmidt,Hilkka Soininen,Timothy A. Thornton,Giuseppe Tosto,Christophe Tzourio,Sven J. van der Lee,Cornelia M. van Duijn,Otto Valladares,Badri N. Vardarajan,Li-San Wang,Weixin Wang,Ellen M. Wijsman,Richard K. Wilson,Daniela Witten,Kim C. Worley,Xiaoling Zhang,Alzheimer’s Disease Sequencing,Alzheimer’s Disease Sequencing,Alzheimer’s Disease Sequencing,Céline Bellenguez,Jean-Charles Lambert,Mitja I. Kurki,Mitja I. Kurki,Mitja I. Kurki,Aarno Palotie,Aarno Palotie,Aarno Palotie,Mark J. Daly,Mark J. Daly,Mark J. Daly,Eric Boerwinkle,Eric Boerwinkle,Kathryn L. Lunetta,Anita L. DeStefano,Josée Dupuis,Eden R. Martin,Gerard D. Schellenberg,Sudha Seshadri,Sudha Seshadri,Adam C. Naj,Myriam Fornage,Lindsay A. Farrer +118 more
TL;DR: The Alzheimer’s Disease Sequencing Project undertook whole exome sequencing in 5,740 late-onset Alzheimer disease cases and 5,096 cognitively normal controls primarily of European ancestry, identifying novel and predicted functional genetic variants in genes previously associated with AD.
Journal ArticleDOI
Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection
TL;DR: VarScan 2 as discussed by the authors employs heuristic and statistic thresholds based on user-defined criteria to call variants using SAMtools mpileup data as input, and describes protocols for using VarScan 2 to identify germline variants in individual samples, call somatic mutations, copy number alterations, and LOH events in tumor-normal pairs.
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Evolutionary toggling of the MAPT 17q21.31 inversion region
Michael C. Zody,Zhaoshi Jiang,Hon Chung Fung,Hon Chung Fung,Francesca Antonacci,LaDeana W. Hillier,Maria Francesca Cardone,Tina Graves,Jeffrey M. Kidd,Ze Cheng,Amr Abouelleil,Lin Chen,John W. Wallis,Jarret Glasscock,Richard K. Wilson,Amy Denise Reily,Jaime Duckworth,Mario Ventura,John Hardy,Wesley C. Warren,Evan E. Eichler +20 more
TL;DR: The analysis favors the H2 configuration and sequence haplotype as the likely great ape and human ancestral state, with inversion recurrences during primate evolution, perhaps explaining its tendency to undergo microdeletion associated with mental retardation in European populations.