Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or b...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Carss, Keren J., Arno, Gavin, Erwood, Marie, Stephens, Jonathan, Sanchis-Juan, Alba, Hull, Sarah, Megy, Karyn, Grozeva, Detelina, Dewhurst, Eleanor, Malka, Samantha, Plagnol, Vincent, Penkett, Christopher, Stirrups, Kathleen, Rizzo, Roberta, Wright, Genevieve, Josifova, Dragana, Bitner-Glindzicz, Maria, Scott, Richard H., Clement, Emma, Allen, Louise, Armstrong, Ruth, Brady, Angela F., Carmichael, Jenny, Chitre, Manali, Henderson, Robert H.H., Hurst, Jane, MacLaren, Robert E., Murphy, Elaine, Paterson, Joan, Rosser, Elisabeth, Thompson, Dorothy A., Wakeling, Emma, Ouwehand, Willem H., Michaelides, Michel, Moore, Anthony T., Webster, Andrew R., Raymond, F. Lucy
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5223092/
https://ncbi.nlm.nih.gov/pubmed/28041643
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.12.003
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