Daniel Perrett
Wellcome Trust Sanger Institute
8 Papers
21 Citations
Daniel Perrett is an academic researcher from Wellcome Trust Sanger Institute. The author has contributed to research in topics: Exome & Exome sequencing. The author has an hindex of 4, co-authored 4 publications.
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Papers
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation
Jeremy F. McRae,Stephen Clayton,Tomas W Fitzgerald,Joanna Kaplanis,Elena Prigmore,Diana Rajan,Alejandro Sifrim,Stuart Aitken,Nadia Akawi,Mohsan Alvi,Kirsty Ambridge,Daniel M Barrett,Tanya Bayzetinova,Philip Jones,Wendy D Jones,Daniel A. King,Netravathi Krishnappa,Laura E Mason,Tarjinder Singh,Adrian Tivey,Munaza Ahmed,Uruj Anjum,Hayley Archer,Ruth Armstrong,Jana Awada,Meena Balasubramanian,Siddharth Banka,Diana Baralle,Angela Barnicoat,Paul Batstone,D. Baty,Christopher P. Bennett,Jonathan Berg,Birgitta Bernhard,A. Paul Bevan,Maria Bitner-Glindzicz,Edward Blair,Moira Blyth,David Bohanna,Louise Bourdon,David Bourn,Lisa Bradley,Angela F. Brady,Simon Brent,Carole Brewer,Kate Brunstrom,David J Bunyan,John Burn,Natalie Canham,Bruce Castle,Kate Chandler,Elena Chatzimichali,Deirdre Cilliers,Angus John Clarke,Susan Clasper,Jill Clayton-Smith,Virginia Clowes,Andrea Coates,Trevor Cole,Irina Colgiu,Amanda L. Collins,Morag N Collinson,Fiona Connell,Nicola S. Cooper,Helen Cox,Lara Cresswell,Gareth Cross,Yanick J. Crow,Mariella D'Alessandro,Tabib Dabir,Rosemarie Davidson,Sally J. Davies,Dylan de Vries,John Dean,Charu Deshpande,Gemma Devlin,Abhijit Dixit,Angus Dobbie,Alan Donaldson,Dian Donnai,Deirdre E. Donnelly,Carina Donnelly,Angela E. Douglas,Sofia Douzgou,Alexis Duncan,Jacqueline Eason,Sian Ellard,Ian Ellis,Frances Elmslie,Karenza Evans,Sarah Everest,Tina Fendick,Richard Fisher,Frances Flinter,Nicola Foulds,Andrew E. Fry,Alan Fryer,Carol Gardiner,Lorraine Gaunt,Neeti Ghali,Richard Gibbons,Harinder Gill,Judith A. Goodship,David Goudie,Emma Gray,Andrew Green,Philip Greene,Lynn Greenhalgh,Susan M. Gribble,Rachel Harrison,Lucy Harrison,Victoria Harrison,Rose Hawkins,Liu He,Stephen W. Hellens,Alex Henderson,Sarah Hewitt,Lucy Hildyard,Emma Hobson,Simon Holden,Muriel Holder,Susan Holder,Georgina Hollingsworth,Tessa Homfray,Mervyn Humphreys,Jane A. Hurst,Ben Hutton,Stuart Ingram,Melita Irving,Lily Islam,Andrew Jackson,Joanna Jarvis,Lucy Jenkins,Diana Johnson,Elizabeth A. Jones,Dragana Josifova,Shelagh Joss,Beckie Kaemba,Sandra Kazembe,Rosemary Kelsell,Bronwyn Kerr,Helen Kingston,Usha Kini,Esther Kinning,Gail Kirby,Claire Kirk,Emma Kivuva,Alison Kraus,Dhavendra Kumar,V.K Ajith Kumar,Katherine Lachlan,Wayne Lam,Anne Lampe,Caroline Langman,Melissa Lees,Derek Lim,Cheryl Longman,Gordon Lowther,Sally Ann Lynch,Alex Magee,Eddy Maher,Alison Male,Sahar Mansour,Karen Marks,Katherine Martin,Una Maye,Emma McCann,Vivienne McConnell,Meriel McEntagart,Ruth McGowan,Kirsten McKay,Shane McKee,Dominic J. McMullan,Susan E. McNerlan,Catherine McWilliam,Sarju G. Mehta,Kay Metcalfe,Anna Middleton,Zosia Miedzybrodzka,Emma Miles,Shehla Mohammed,Tara Montgomery,David Moore,Sian Morgan,Jenny Morton,Hood Mugalaasi,Victoria Murday,Helen Murphy,Swati Naik,Andrea H. Németh,Louise Nevitt,Ruth Newbury-Ecob,Andrew R. Norman,Rosie O'Shea,Caroline Mackie Ogilvie,Kai-Ren Ong,Soo-Mi Park,Michael Parker,Chirag N. Patel,Joan Paterson,Stewart Payne,Daniel Perrett,Julie M. Phipps,Daniela T Pilz,Martin O. Pollard,Caroline Pottinger,Joanna Poulton,Norman Pratt,Katrina Prescott,Sue Price,Abigail Pridham,Annie Procter,Hellen Purnell,Oliver Quarrell,Nicola K. Ragge,Raheleh Rahbari,Josh Randall,Julia Rankin,Lucy Raymond,Debbie Rice,Leema Robert,Eileen Roberts,Jonathan Roberts,Paul Roberts,Gillian Roberts,Alison Ross,Elisabeth Rosser,Anand Saggar,Shalaka Samant,Julian R. Sampson,R Sandford,Ajoy Sarkar,Susann Schweiger,Richard H Scott,Ingrid Scurr,Ann Selby,Anneke Seller,Cheryl Sequeira,Nora Shannon,Saba Sharif,Charles Shaw-Smith,Emma Shearing,Debbie Shears,Eamonn Sheridan,Ingrid Simonic,Roldan Singzon,Zara Skitt,Audrey Smith,Kath Smith,Sarah F. Smithson,Linda Sneddon,Miranda Splitt,Miranda Squires,Fiona Stewart,Helen Stewart,Volker Straub,Mohnish Suri,Vivienne Sutton,Ganesh J. Swaminathan,Elizabeth M. Sweeney,Kate Tatton-Brown,Cat Taylor,Rohan Taylor,Mark Tein,I. Karen Temple,Jenny Thomson,Marc Tischkowitz,Susan Tomkins,Audrey Torokwa,Becky Treacy,Claire E. Turner,Peter D. Turnpenny,Carolyn Tysoe,Anthony Vandersteen,Vinod Varghese,Pradeep C. Vasudevan,Parthiban Vijayarangakannan,Julie Vogt,Emma Wakeling,Sarah Wallwark,Jonathon Waters,Astrid Weber,Diana Wellesley,Margo Whiteford,Sara Widaa,Sarah Wilcox,Emily Wilkinson,Denise Williams,Nicola Williams,Louise C. Wilson,Geoff Woods,Christopher Wragg,Michael Wright,Laura Yates,Michael Yau,Chris Nellaker,Helen V. Firth,Caroline F. Wright,David R. FitzPatrick,Jeffrey C. Barrett,Matthew E. Hurles +300 more
TL;DR: The most significant factors influencing the diagnostic yield of de novo mutations are the sex of the affected individual, the relatedness of their parents and the age of both father and mother as discussed by the authors.
Registered access: authorizing data access
Stephanie O.M. Dyke,Stephanie O.M. Dyke,Mikael Linden,Ilkka Lappalainen,Ilkka Lappalainen,Jordi Rambla De Argila,Knox Carey,David Lloyd,J. Dylan Spalding,Moran N. Cabili,Giselle Kerry,Julia Foreman,Tim Cutts,Mahsa Shabani,Laura Lyman Rodriguez,Maximilian Haeussler,Brian Walsh,Xiaoqian Jiang,Shuang Wang,Daniel Perrett,Tiffany Boughtwood,Andreas Matern,Anthony J. Brookes,Miro Cupak,Marc Fiume,Ravindra Nath Pandya,Ilia Tulchinsky,Serena Scollen,Juha Törnroos,Samir Das,Alan C. Evans,Bradley A. Malin,Stephan Beck,Steven E. Brenner,Tommi Nyrönen,Niklas Blomberg,Helen V. Firth,Matthew E. Hurles,Anthony A. Philippakis,Gunnar Rätsch,Michael Brudno,Kym M. Boycott,Heidi L. Rehm,Heidi L. Rehm,Michael Baudis,Stephen T. Sherry,Kazuto Kato,Bartha Maria Knoppers,Dixie B. Baker,Paul Flicek +49 more
TL;DR: Ethics, policy and technical guidance are provided to facilitate the implementation of this access model in an international setting and to increase and improve access to data requiring an agreement to basic terms and conditions.
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
Jeremy F. McRae,Stephen Clayton,Tomas W Fitzgerald,Joanna Kaplanis,Elena Prigmore,Diana Rajan,Alejandro Sifrim,Stuart Aitken,Nadia Akawi,Mohsan Alvi,Kirsty Ambridge,Daniel M Barrett,Tanya Bayzetinova,Philip Jones,Wendy D Jones,Daniel A. King,Netravathi Krishnappa,Laura E Mason,Tarjinder Singh,Adrian Tivey,M Ahmed,U Anjum,Hayley Archer,Hayley Archer,Ruth Armstrong,J Awada,Meena Balasubramanian,Siddharth Banka,Diana Baralle,Angela Barnicoat,P Batstone,D. Baty,Christopher P. Bennett,Jonathan Berg,B Bernhard,AP Bevan,Maria Bitner-Glindzicz,Edward Blair,Moira Blyth,D Bohanna,L Bourdon,David Bourn,Lisa Bradley,Angela F. Brady,Simon Brent,C Brewer,K Brunstrom,DJ Bunyan,J Burn,Natalie Canham,Bruce Castle,Kate Chandler,Eleni A. Chatzimichali,D Cilliers,Angus John Clarke,Angus John Clarke,S Clasper,Jill Clayton-Smith,Clowes,A Coates,Trevor Cole,Irina Colgiu,Amanda L. Collins,MN Collinson,Fiona Connell,Nicola S. Cooper,Helen Cox,Lara Cresswell,G Cross,Yanick J. Crow,M D'Alessandro,Tabib Dabir,Rosemarie Davidson,Simon J. Davies,Simon J. Davies,D de Vries,John Dean,C Deshpande,G Devlin,Abhijit Dixit,A Dobbie,Alan Donaldson,Dian Donnai,Deirdre E. Donnelly,C Donnelly,Angela E. Douglas,Sofia Douzgou,A Duncan,Jacqueline Eason,Sian Ellard,I Ellis,Frances Elmslie,K Evans,K Evans,S Everest,T Fendick,R Fisher,Frances Flinter,Nicola Foulds,Andrew E. Fry,Andrew E. Fry,Alan Fryer,C Gardiner,Lorraine Gaunt,Neeti Ghali,Richard Gibbons,Harinder Gill,Judith A. Goodship,David Goudie,Emma Gray,Andrew Green,Philip Greene,L Greenhalgh,Susan M. Gribble,L Harrison,Harrison,R Hawkins,Liu He,Stephen W. Hellens,Alex Henderson,Sarah Hewitt,Lucy Hildyard,Emma Hobson,Simon Holden,M Holder,Susan E. Holder,G Hollingsworth,Tessa Homfray,Mervyn Humphreys,Jane A. Hurst,Ben Hutton,S Ingram,Melita Irving,L Islam,Andrew Jackson,J Jarvis,Lucy Jenkins,Diana Johnson,Elizabeth A. Jones,Dragana Josifova,Shelagh Joss,B Kaemba,S Kazembe,Rosemary Kelsell,Bronwyn Kerr,Helen Kingston,Usha Kini,Esther Kinning,G Kirby,Claire Kirk,E Kivuva,Alison Kraus,Dhavendra Kumar,Dhavendra Kumar,Vka Kumar,Katherine Lachlan,Wayne Lam,A Lampe,Caroline Langman,Melissa Lees,D Lim,C Longman,G Lowther,Sally Ann Lynch,Alex Magee,E Maher,Alison Male,Sahar Mansour,K Marks,Katherine Martin,U Maye,Emma McCann,McConnell,Meriel M. McEntagart,Ruth McGowan,K McKay,Shane McKee,Dominic J. McMullan,Susan E. McNerlan,C McWilliam,Sarju G. Mehta,Kay Metcalfe,Anna Middleton,Z Miedzybrodzka,E Miles,Shehla Mohammed,Tara Montgomery,David Moore,Sian Morgan,Sian Morgan,Jenny Morton,Hood Mugalaasi,Hood Mugalaasi,Murday,Helen Murphy,S Naik,Andrea H. Németh,L Nevitt,Ruth Newbury-Ecob,Andrew R. Norman,R O'Shea,Caroline Mackie Ogilvie,K-R Ong,S-M Park,Michael Parker,Chirag N. Patel,Joan Paterson,S Payne,Daniel Perrett,Julie M. Phipps,DT Pilz,Martin O. Pollard,Caroline Pottinger,Joanna Poulton,N Pratt,Katrina Prescott,Susan Price,A Pridham,A Procter,A Procter,H Purnell,O. W.J. Quarrell,Nicola K. Ragge,Raheleh Rahbari,Joshua C. Randall,J Rankin,Lucy Raymond,D Rice,Leema Robert,E Roberts,J Roberts,Pendaran Roberts,Gillian Roberts,Allyson Ross,Elisabeth Rosser,Anand Saggar,S Samant,Julian R. Sampson,Julian R. Sampson,R Sandford,Ajoy Sarkar,S Schweiger,Richard H Scott,Ingrid Scurr,A Selby,Anneke Seller,C Sequeira,Nora Shannon,Saba Sharif,C Shaw-Smith,Emma Shearing,Deborah J. Shears,Eamonn Sheridan,Ingrid Simonic,R Singzon,Zara Skitt,Andrew Smith,Kath Smith,Sarah F. Smithson,Linda Sneddon,Miranda Splitt,M Squires,Fiona Stewart,H. Stewart,Straub,Mohnish Suri,Sutton,Ganesh J. Swaminathan,Elizabeth M. Sweeney,Katrina Tatton-Brown,Clare Taylor,R. Taylor,M Tein,IK Temple,J Thomson,Marc Tischkowitz,Susan Tomkins,A Torokwa,Becky Treacy,Claire L. S. Turner,Peter D. Turnpenny,C Tysoe,A Vandersteen,Varghese,Varghese,Pradeep C. Vasudevan,Parthiban Vijayarangakannan,Julie Vogt,Emma Wakeling,S Wallwark,J Waters,Astrid Weber,Diana Wellesley,Margo Whiteford,Sara Widaa,S Wilcox,E Wilkinson,Denise Williams,N Williams,Louise C. Wilson,G Woods,C Wragg,Michael Wright,Laura Yates,M Yau,Christoffer Nellåker,Helen V. Firth,Helen V. Firth,Caroline F. Wright,FitzPatrick,FitzPatrick,Jeffrey C. Barrett,Matthew E. Hurles +312 more
TL;DR: It is shown that the most significant factors influencing the diagnostic yield of de novo mutations are the sex of the affected individual, the relatedness of their parents and the age of both father and mother.
DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.
TL;DR: DECIPHER (Database of Genomic Variation and Phenotype in Humans Using Ensembl Resources) shares candidate diagnostic variants and phenotypic data from patients with genetic disorders to facilitate research and improve the diagnosis, management, and therapy of rare diseases.
15
Optimising diagnostic yield in highly penetrant genomic disease
Caroline F. Wright,Patrick Campbell,Rita Eberhardt,Sri Aitken,Daniel Perrett,Simon Brent,Petr Danecek,E. J. Gardener,Sarah J. Lindsay,V. K. Chundru,Katrina A. Andrews,J. Hampstead,Joanna Kaplanis,Kaitlin E. Samocha,Alice Middleton,Julia Foreman,R Hobson,Michael Parker,Hilary C. Martin,David R. FitzPatrick,Matthew E. Hurles,H Firth +21 more
TL;DR: The Deciphering Developmental Disorders (DDD) study as mentioned in this paper recruited >33,500 individuals from families with severe, likely monogenic developmental disorders from 24 regional genetics services around the UK and Ireland.