Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing

• Published in: PloS one Vol. 9; no. 8; p. e104281
• Main Authors: Watson, Christopher M, El-Asrag, Mohammed, Parry, David A, Morgan, Joanne E, Logan, Clare V, Carr, Ian M, Sheridan, Eamonn, Charlton, Ruth, Johnson, Colin A, Taylor, Graham, Toomes, Carmel, McKibbin, Martin, Inglehearn, Chris F, Ali, Manir
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 18.08.2014; Public Library of Science (PLoS)
• Subjects: Analysis; Biology and Life Sciences; Clinical trials; Congenital diseases; Deoxyribonucleic acid; Disease; DNA; DNA Mutational Analysis - methods; DNA sequencing; Dystrophy; Enrichment; Female; Gene mutation; Gene sequencing; Genes; Genetic aspects; Genetic Association Studies; Genetic counseling; Genetic counselling; Genetic Predisposition to Disease; Genetic screening; Genetic testing; Genetics; Genomes; Genomics; Guanylate cyclase 1; High-Throughput Nucleotide Sequencing; Hospitals; Humans; Implantation; Male; Medical genetics; Medical research; Medicine and Health Sciences; Multiprocessing; Mutation; Neurosciences; Nucleotide sequence; Patients; Pedigree; Prognosis; Retina; Retinal degeneration; Retinal Dystrophies - genetics; Screening; Tagging; USH2A protein; United Kingdom > UK

Retinal dystrophies are genetically heterogeneous, resulting from mutations in over 200 genes. Prior to the development of massively parallel sequencing, comprehensive genetic screening was unobtainable for most patients. Identifying the causative genetic mutation facilitates genetic counselling, ca...