R
Ray Miller
Researcher at Wellcome Trust Sanger Institute
Publications - 2
Citations - 700
Ray Miller 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 2, co-authored 2 publications receiving 550 citations.
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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
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders
Daniel A. King,Tomas W Fitzgerald,Ray Miller,Natalie Canham,Jill Clayton-Smith,Diana Johnson,Sahar Mansour,Fiona Stewart,Pradeep C. Vasudevan,Matthew E. Hurles +9 more
TL;DR: This tool is the first to read VCF-formatted genotypes, to perform integrated copy number filtering, and to use a statistical test inherently robust for use in platforms of varying genotyping density and noise characteristics.