D
Diana Rajan
Researcher at Wellcome Trust Sanger Institute
Publications - 28
Citations - 4709
Diana Rajan is an academic researcher from Wellcome Trust Sanger Institute. The author has contributed to research in topics: Exome sequencing & Exome. The author has an hindex of 16, co-authored 21 publications receiving 3661 citations.
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Journal ArticleDOI
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Helen V. Firth,Shola M. Richards,A. Paul Bevan,Stephen Clayton,Manuel Corpas,Diana Rajan,Steven Van Vooren,Yves Moreau,Roger Pettett,Nigel P. Carter +9 more
TL;DR: An interactive web-based database called DECIPHER (Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources) which incorporates a suite of tools designed to aid the interpretation of submicroscopic chromosomal imbalance, inversions, and translocations.
Journal ArticleDOI
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
Caroline F. Wright,Tomas W Fitzgerald,Wendy D Jones,Stephen Clayton,Jeremy F. McRae,Margriet van Kogelenberg,Daniel A. King,Kirsty Ambridge,Daniel M Barrett,Tanya Bayzetinova,A. Paul Bevan,Eugene Bragin,Eleni A. Chatzimichali,Susan M. Gribble,Philip Jones,Netravathi Krishnappa,Laura E Mason,Ray Miller,Katherine I. Morley,Katherine I. Morley,Katherine I. Morley,Vijaya Parthiban,Elena Prigmore,Diana Rajan,Alejandro Sifrim,G. Jawahar Swaminathan,Adrian Tivey,Anna Middleton,Michael Parker,Nigel P. Carter,Jeffrey C. Barrett,Matthew E. Hurles,David R. FitzPatrick,Helen V. Firth,Helen V. Firth +34 more
TL;DR: In families with developmentally normal parents, whole exome sequencing of the child and both parents resulted in a 10-fold reduction in the number of potential causal variants that needed clinical evaluation compared to sequencing only the child.
Journal ArticleDOI
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
Dalila Pinto,Katayoon Darvishi,Xinghua Shi,Diana Rajan,Diane Rigler,Tom Fitzgerald,Anath C. Lionel,Bhooma Thiruvahindrapuram,Jeffrey R. MacDonald,Ryan E. Mills,Aparna Prasad,Kristin M. Noonan,Kristin M. Noonan,Susan M. Gribble,Elena Prigmore,Patricia K. Donahoe,Richard S. Smith,Ji Hyeon Park,Matthew E. Hurles,Nigel P. Carter,Charles Lee,Stephen W. Scherer,Stephen W. Scherer,Lars Feuk +23 more
TL;DR: The striking differences between CNV calls from different platforms and analytic tools highlight the importance of careful assessment of experimental design in discovery and association studies and of strict data curation and filtering in diagnostics.
Journal ArticleDOI
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Pawel Stankiewicz,Partha Sen,Samarth Bhatt,Mekayla Storer,Zhilian Xia,Bassem A. Bejjani,Zhishuo Ou,Joanna Wiszniewska,Daniel J. Driscoll,Juan Bolivar,Mislen Bauer,Elaine H. Zackai,Donna M. McDonald-McGinn,Malgorzata M.J. Nowaczyk,Mitzi L. Murray,Tamim H. Shaikh,Vicki Martin,Matthew Tyreman,Ingrid Simonic,Lionel Willatt,Joan Paterson,Sarju G. Mehta,Diana Rajan,Tomas W Fitzgerald,Susan M. Gribble,Elena Prigmore,Ankita Patel,Lisa G. Shaffer,Nigel P. Carter,Sau Wai Cheung,Claire Langston,Charles Shaw-Smith +31 more
TL;DR: Differences in microdeletions of FOXF1 were associated with hypoplastic left heart syndrome and gastrointestinal atresias, probably due to haploinsufficiency for the neighboring FOXC2 and FOXL1 genes, reveal the phenotypic consequences of gene alterations in cis.
Journal ArticleDOI
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Alejandro Sifrim,Marc-Phillip Hitz,Anna Wilsdon,Jeroen Breckpot,Saeed Al Turki,Saeed Al Turki,Saeed Al Turki,Bernard Thienpont,Jeremy F. McRae,Tomas W Fitzgerald,Tarjinder Singh,Ganesh J. Swaminathan,Elena Prigmore,Diana Rajan,Hashim Abdul-Khaliq,Siddharth Banka,Siddharth Banka,U.M.M. Bauer,Jamie Bentham,Felix Berger,Shoumo Bhattacharya,Frances A. Bu'Lock,Natalie Canham,Irina-Gabriela Colgiu,Catherine Cosgrove,Helen Cox,Ingo Daehnert,Allan Daly,John Danesh,John Danesh,Alan Fryer,Marc Gewillig,Emma Hobson,Kirstin Hoff,Tessa Homfray,Anne-Karin Kahlert,Ami Ketley,Hans-Heiner Kramer,Katherine Lachlan,Katherine Lachlan,Katherine Lachlan,AK Lampe,Jacoba Louw,Ashok Kumar Manickara,Dorin Manase,Karen P. McCarthy,Kay Metcalfe,Carmel Moore,Ruth Newbury-Ecob,Seham Osman Omer,Willem H. Ouwehand,Soo-Mi Park,Michael Parker,Thomas Pickardt,Martin O. Pollard,Leema Robert,David J. Roberts,David J. Roberts,David J. Roberts,Jennifer G. Sambrook,Kerry Setchfield,Brigitte Stiller,Christopher Thornborough,Okan Toka,Hugh Watkins,Denise Williams,Michael Wright,Seema Mital,Piers E.F. Daubeney,Bernard Keavney,Judith A. Goodship,Riyadh M. Abu-Sulaiman,Riyadh M. Abu-Sulaiman,Riyadh M. Abu-Sulaiman,Sabine Klaassen,Caroline F. Wright,Helen V. Firth,Jeffrey C. Barrett,Koenraad Devriendt,David R. FitzPatrick,J. David Brook,Matthew E. Hurles +81 more
TL;DR: Exome sequenced 1,891 probands and identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1, finding evidence for distinct genetic architectures underlying the low sibling recurrence risk in S- CHD and NS-CHd.