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 AllenRuth 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, NIHR-BioResource Rare Dis, Yvonne Henskens, Johan Heemskerk, F. Lucy Raymond*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)75-90
Number of pages16
JournalAmerican Journal of Human Genetics
Volume100
Issue number1
DOIs
Publication statusPublished - 5 Jan 2017

Keywords

  • LEBER CONGENITAL AMAUROSIS
  • STARGARDT DISEASE
  • EXOME
  • DYSTROPHY
  • MUTATION
  • GENE
  • DIAGNOSIS
  • REVEALS
  • PROTEIN
  • ACTIVATION

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