Comprehensive Rare Variant Analysis Via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Keren J. Carss,Gavin Arno,Marie Erwood, Jonathan Stephens,Alba Sanchis-Juan,Sarah Hull,Karyn Megy,Detelina Grozeva,Eleanor Dewhurst,Samantha Malka,Vincent Plagnol,Christopher Penkett,Kathleen Stirrups,Roberta Rizzo,Genevieve Wright,Dragana Josifova,Maria Bitner-Glindzicz,Richard H. Scott,Emma Clement,Louise Allen, Ruth Armstrong, Angela F. Brady, Jenny Carmichael, Manali Chitre, Robert H. H. Henderson, Jane Hurst, Robert E. MacLaren, Elaine Murphy, Joan Paterson, Elisabeth Rosser, Dorothy A. Thompson, Emma Wakeling, Willem H. Ouwehand, Michel Michaelides, Anthony T. Moore, Andrew R. Webster, F. Lucy Raymond American journal of human genetics（2017）
Key words
retinal dystrophy,whole-genome sequence,copy-number variants,rare sequence variant
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