P
Patrick J. Short
Researcher at Wellcome Trust Sanger Institute
Publications - 21
Citations - 1123
Patrick J. Short is an academic researcher from Wellcome Trust Sanger Institute. The author has contributed to research in topics: Exome & Mutation. The author has an hindex of 10, co-authored 20 publications receiving 669 citations. Previous affiliations of Patrick J. Short include University of Oxford & University of North Carolina at Chapel Hill.
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Journal ArticleDOI
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Joanna Kaplanis,Kaitlin E. Samocha,Laurens Wiel,Z Zhang,Kevin J. Arvai,Ruth Y. Eberhardt,Giuseppe Gallone,Stefan H. Lelieveld,Hilary C. Martin,Jeremy F. McRae,Patrick J. Short,Rebecca I. Torene,E. de Boer,Petr Danecek,Eugene J. Gardner,Ni Huang,Jenny Lord,Jenny Lord,Inigo Martincorena,Rolph Pfundt,Reijnders Mrf.,Reijnders Mrf.,A Yeung,Helger G. Yntema,S Borras,C Clark,J Dean,Z Miedzybrodzka,A Ross,A Ross,S Tennant,T Dabir,D Donnelly,M Humphreys,A Magee,V McConnell,Shane McKee,Susan E. McNerlan,P J Morrison,Gillian Rea,Fiona Stewart,Trevor Cole,Nicola S. Cooper,L Cooper-Charles,Helen Cox,L Islam,Joseph P. Jarvis,Rebecca Keelagher,D Lim,Dominic J. McMullan,Jenny Morton,S Naik,M O’Driscoll,K R Ong,Deborah Osio,Nicola K. Ragge,S Turton,Julie Vogt,Denise Williams,S. Bodek,Alan Donaldson,A. Hills,K Low,Ruth Newbury-Ecob,A M Norman,E. Roberts,Ingrid Scurr,Sarah F. Smithson,Madeleine J. Tooley,S Abbs,Ruth Armstrong,C Dunn,Simon Holden,Soo-Mi Park,Joan Paterson,Lucy Raymond,E Reid,R Sandford,Ingrid Simonic,Marc Tischkowitz,G Woods,Lisa Bradley,J Comerford,Angie Green,Sally Ann Lynch,S McQuaid,B Mullaney,Jonathan Berg,David Goudie,E Mavrak,J McLean,C McWilliam,E Reavey,T Azam,E Cleary,Andrew Jackson,Wayne Lam,AK Lampe,David Moore,Mary E. M. Porteous,Emma L. Baple,Julia Baptista,C Brewer +102 more
TL;DR: To identify novel DD-associated genes, healthcare and research exome sequences are integrated on 31,058 DD parent-offspring trios, and a simulation-based statistical test is developed to identify gene-specific enrichments of DNMs.
Journal ArticleDOI
De novo mutations in regulatory elements in neurodevelopmental disorders.
Patrick J. Short,Jeremy F. McRae,Giuseppe Gallone,Alejandro Sifrim,Hyejung Won,Daniel H. Geschwind,Caroline F. Wright,Caroline F. Wright,Helen V. Firth,Helen V. Firth,David R. FitzPatrick,David R. FitzPatrick,Jeffrey C. Barrett,Matthew E. Hurles +13 more
TL;DR: It is shown that de novo mutations in highly evolutionarily conserved fetal brain-active elements are significantly and specifically enriched in neurodevelopmental disorders and a significant twofold enrichment of recurrently mutated elements.
Journal ArticleDOI
Quantifying the contribution of recessive coding variation to developmental disorders.
Hilary C. Martin,Wendy D Jones,Wendy D Jones,Rebecca E. McIntyre,Gabriela Sánchez-Andrade,Mark Sanderson,James Stephenson,James Stephenson,Carla P. Jones,Juliet Handsaker,Giuseppe Gallone,Michaela Bruntraeger,Jeremy F. McRae,Elena Prigmore,Patrick J. Short,Mari Niemi,Joanna Kaplanis,Elizabeth J. Radford,Elizabeth J. Radford,Nadia Akawi,Meena Balasubramanian,John Dean,Rachel Horton,Alice Hulbert,Diana S. Johnson,Katie Johnson,Dhavendra Kumar,Sally Ann Lynch,Sarju G. Mehta,Jenny Morton,Michael J. Parker,Miranda Splitt,Peter D. Turnpenny,Pradeep C. Vasudevan,Michael Wright,Andrew R. Bassett,Sebastian S. Gerety,Caroline F. Wright,David R. FitzPatrick,Helen V. Firth,Helen V. Firth,Matthew E. Hurles,Jeffrey C. Barrett +42 more
TL;DR: The results suggest that recessive coding variants account for a small fraction of currently undiagnosed nonconsanguineous individuals, and that the role of noncoding variants, incomplete penetrance, and polygenic mechanisms need further exploration.
Journal ArticleDOI
TNFα signals through specialized factories where responsive coding and miRNA genes are transcribed.
Argyris Papantonis,Takahide Kohro,Sabyasachi Baboo,Joshua D. Larkin,Binwei Deng,Patrick J. Short,Patrick J. Short,Shuichi Tsutsumi,Stephen S. Taylor,Yasuharu Kanki,Mika Kobayashi,Guoliang Li,Huay-Mei Poh,Xiaoan Ruan,Hiroyuki Aburatani,Yijun Ruan,Tatsuhiko Kodama,Youichiro Wada,Peter R. Cook +18 more
TL;DR: It is shown that TNFα induces responsive genes to congregate in discrete ‘NFκB factories’, and it is expected that all signalling pathways to contain this extra leg.
Journal ArticleDOI
Pathogenicity and selective constraint on variation near splice sites.
Jenny Lord,Giuseppe Gallone,Patrick J. Short,Jeremy F. McRae,Holly Ironfield,Elizabeth H. Wynn,Sebastian S. Gerety,Liu He,Bronwyn Kerr,Bronwyn Kerr,Diana S. Johnson,Emma McCann,Esther Kinning,Frances Flinter,I. Karen Temple,I. Karen Temple,Jill Clayton-Smith,Jill Clayton-Smith,Meriel McEntagart,Sally Ann Lynch,Shelagh Joss,Sofia Douzgou,Sofia Douzgou,Tabib Dabir,Virginia Clowes,Vivienne McConnell,Wayne Lam,Caroline F. Wright,David R. FitzPatrick,David R. FitzPatrick,Helen V. Firth,Helen V. Firth,Jeffrey C. Barrett,Matthew E. Hurles +33 more
TL;DR: Exome sequencing data from 7833 probands with developmental disorders and their unaffected parents and more than 60,000 aggregated exomes from the Exome Aggregation Consortium are used to investigate selection around the splice sites and calculate the positive predictive value of pathogenicity for different classes of mutations.