Joe Whitney
The Centre for Applied Genomics
5 Papers
7 Citations
Joe Whitney is an academic researcher from The Centre for Applied Genomics. The author has contributed to research in topics: Whole genome sequencing & Copy-number variation. The author has an hindex of 4, co-authored 5 publications.
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Papers
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Ryan K. C. Yuen,Daniele Merico,Matt Bookman,Jennifer L. Howe,Bhooma Thiruvahindrapuram,Rohan V. Patel,Joe Whitney,Nicole A. Deflaux,Jonathan Bingham,Zhuozhi Wang,Giovanna Pellecchia,Janet A. Buchanan,Susan Walker,Christian R. Marshall,Mohammed Uddin,Mehdi Zarrei,Eric Deneault,Lia D’Abate,Lia D’Abate,Ada J.S. Chan,Ada J.S. Chan,Stephanie Koyanagi,Tara Paton,Sergio L. Pereira,Ny Hoang,Worrawat Engchuan,Edward J Higginbotham,Karen Ho,Sylvia Lamoureux,Weili Li,Jeffrey R. MacDonald,Thomas Nalpathamkalam,Wilson W L Sung,Fiona Tsoi,John Wei,Lizhen Xu,Anne Marie Tassé,Emily Kirby,William Van Etten,Simon N. Twigger,Wendy Roberts,Irene Drmic,Sanne Jilderda,Bonnie Mackinnon Modi,Barbara Kellam,Michael J. Szego,Michael J. Szego,Cheryl Cytrynbaum,Rosanna Weksberg,Lonnie Zwaigenbaum,Marc Woodbury-Smith,Marc Woodbury-Smith,Jessica Brian,Lili Senman,Alana Iaboni,Krissy A.R. Doyle-Thomas,Ann Thompson,Christina Chrysler,Jonathan Leef,Tal Savion-Lemieux,Isabel M. Smith,Xudong Liu,Rob Nicolson,Vicki Seifer,Angie Fedele,Edwin H. Cook,Stephen R. Dager,Annette Estes,Louise Gallagher,Beth A. Malow,Jeremy R. Parr,Sarah J. Spence,Jacob A. S. Vorstman,Brendan J. Frey,James T. Robinson,Lisa J. Strug,Lisa J. Strug,Bridget A. Fernandez,Mayada Elsabbagh,Melissa T. Carter,Joachim Hallmayer,Bartha Maria Knoppers,Evdokia Anagnostou,Peter Szatmari,Peter Szatmari,Robert H. Ring,David Glazer,Mathew T. Pletcher,Stephen W. Scherer,Stephen W. Scherer +89 more
TL;DR: Se sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal that identified 18 new candidate ASD-risk genes and found that participants bearing mutations in susceptibility genes had significantly lower adaptive ability.
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Paternally inherited cis-regulatory structural variants are associated with autism.
William M. Brandler,Danny Antaki,Madhusudan Gujral,Morgan L. Kleiber,Joe Whitney,Michelle S. Maile,Oanh Hong,Timothy R. Chapman,Shirley Tan,Prateek Tandon,Timothy Pang,Timothy Pang,Shih C. Tang,Shih C. Tang,Keith K. Vaux,Yan Yang,Eoghan D. Harrington,Sissel Juul,Daniel J. Turner,Bhooma Thiruvahindrapuram,Gaganjot Kaur,Zhuozhi Wang,Stephen F. Kingsmore,Joseph G. Gleeson,Denis Bisson,Boyko Kakaradov,Amalio Telenti,J. Craig Venter,Roser Corominas,Claudio Toma,Claudio Toma,Claudio Toma,Bru Cormand,Isabel Rueda,Silvina Guijarro,Karen Messer,Caroline M. Nievergelt,Maria J. Arranz,Eric Courchesne,Karen Pierce,Alysson R. Muotri,Lilia M. Iakoucheva,Amaia Hervás,Stephen W. Scherer,Stephen W. Scherer,Christina Corsello,Christina Corsello,Jonathan Sebat +47 more
TL;DR: The results suggest that rare inherited noncoding variants predispose children to ASD, with differing contributions from each parent.
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
Miriam S. Reuter,Susan Walker,Bhooma Thiruvahindrapuram,Joe Whitney,Iris Cohn,Neal Sondheimer,Ryan K. C. Yuen,Brett Trost,Tara Paton,Sergio L. Pereira,Jo Anne Herbrick,Richard F. Wintle,Daniele Merico,Jennifer L. Howe,Jeffrey R. MacDonald,Chao Lu,Thomas Nalpathamkalam,Wilson W L Sung,Zhuozhi Wang,Rohan V. Patel,Giovanna Pellecchia,John Wei,Lisa J. Strug,Sherilyn L. Bell,Barbara Kellam,Melanie M. Mahtani,Anne S. Bassett,Yvonne Bombard,Rosanna Weksberg,Cheryl Shuman,Ronald D. Cohn,Dimitri J. Stavropoulos,Sarah Bowdin,Matthew R. Hildebrandt,Wei Wei,Asli Romm,Peter Pasceri,James Ellis,Peter N. Ray,M. Stephen Meyn,Nasim Monfared,S. Mohsen Hosseini,Ann M. Joseph-George,Fred W. Keeley,Ryan A. Cook,Marc Fiume,Hin C. Lee,Christian R. Marshall,Jill Davies,Allison Hazell,Janet A. Buchanan,Michael J. Szego,Stephen W. Scherer +52 more
TL;DR: Genomic variation identified in the initial recruitment cohort of 56 volunteers is described and a spectrum of genetic variants with potential health impact in 25% of participants are identified.
A Distributed Whole Genome Sequencing Benchmark Study.
Richard D. Corbett,Robert Eveleigh,Joe Whitney,Namrata Barai,Mathieu Bourgey,Eric Chuah,Joanne Johnson,Richard A Moore,Neda Moradin,Karen Mungall,Sergio L. Pereira,Miriam S. Reuter,Bhooma Thiruvahindrapuram,Richard F. Wintle,Jiannis Ragoussis,Lisa J. Strug,Jo-Anne Herbrick,Naveed Aziz,Steven J.M. Jones,Mark Lathrop,Stephen W. Scherer,Alfredo Staffa,Andrew J. Mungall +22 more
TL;DR: It is concluded that genome sequencing projects can rely on the quality and reproducibility of aggregate data generated across a network of distributed sites.
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data
Brett Trost,Susan Walker,Zhuozhi Wang,Bhooma Thiruvahindrapuram,Jeffrey R. MacDonald,Wilson W L Sung,Sergio L. Pereira,Joe Whitney,Ada J.S. Chan,Ada J.S. Chan,Giovanna Pellecchia,Miriam S. Reuter,Si Lok,Ryan K. C. Yuen,Christian R. Marshall,Daniele Merico,Stephen W. Scherer,Stephen W. Scherer +17 more
TL;DR: A detailed workflow for identifying germline CNVs >1 kb from short-read WGS data using read depth-based algorithms is empirically developed, positioning WGS as a single assay for genetic variation detection.