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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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Additional file 1: of Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours
Sarah F. Barclay,Casey M. Rand,Lauren A. Borch,Lisa Nguyen,Paul A. Gray,William T. Gibson,Richard K. Wilson,Paul M. K. Gordon,Zaw Aung,Elizabeth M Berry-Kravis,Diego Ize-Ludlow,Debra E Weese-Mayer,N. Bech Hansen +12 more
TL;DR: Clinical exome sequencing is highly unlikely to be a useful diagnostic test in patients with true ROHHAD, and it remains imperative to expand the search for non-exomic genetic risk factors, as well as to investigate other possible mechanisms of disease.
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Assessing telomeric DNA content in pediatric cancers using whole-genome sequencing data
Matthew Parker,Xiang Chen,Armita Bahrami,James Dalton,Michael Rusch,Gang Wu,John Easton,Nai-Kong V. Cheung,Michael A. Dyer,Elaine R. Mardis,Richard K. Wilson,Charles G. Mullighan,Richard J. Gilbertson,Suzanne J. Baker,Gerard P. Zambetti,David W. Ellison,James R. Downing,Jinghui Zhang +17 more
TL;DR: This is the first comprehensive analysis of telomeric DNA content change in tumors using whole-genome sequencing data from 235 pediatric cancers and reveals significant association of telomere gain with the frequency of somatic sequence mutations and structural variations.
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BreakTrans: uncovering the genomic architecture of gene fusions
Ken Chen,Ken Chen,Nicholas Navin,Yong Wang,Heather Schmidt,John W. Wallis,Beifang Niu,Xian Fan,Xian Fan,Hao Zhao,Michael D. McLellan,Katherine A. Hoadley,Elaine R. Mardis,Timothy J. Ley,Charles M. Perou,Richard K. Wilson,Li Ding +16 more
TL;DR: A tool, BreakTrans, is presented, that systematically maps predicted gene fusions to structural rearrangements and effectively validates known fusions and discovers novel events in a breast cancer cell line.
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Analysis of Human mRNAs With the Reference Genome Sequence Reveals Potential Errors, Polymorphisms, and RNA Editing
Terrence S. Furey,Mark Diekhans,Yontao Lu,Tina Graves,Lachlan G. Oddy,Jennifer Randall-Maher,LaDeana W. Hillier,Richard K. Wilson,David Haussler +8 more
TL;DR: Computational comparison of these mRNA sequences and the recently published essentially finished human genome sequence reveals several thousand undocumented nonsynonymous substitution and frame shift discrepancies between the two resources, suggesting that the mRNA collections may contain a substantial number of errors.
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Comparison of Sample Sequences of the Salmonella typhi Genome to the Sequence of the Complete Escherichia coli K-12 Genome
TL;DR: Raw sequence data representing the majority of a bacterial genome can be obtained at a tiny fraction of the cost of a completed sequence, to demonstrate the utility of such a resource, 870 single-stranded M13 clones were sequenced from a shotgun library of the Salmonella typhi Ty2 genome.