Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease

Autor: Stephen A Roberts, Rahat Perveen, William G. Newman, Georgina Hall, Simon C Ramsden, Simon G. Williams, Andrea H. Németh, Graeme C.M. Black, Rick Tearle, Stephanie Barton, Janine A. Lamb, James O'Sullivan, Jamie M Ellingford, Sanjeev S. Bhaskar, Rick Leach, Panagiotis I. Sergouniotis, Stuart Bayliss, Paul N. Bishop

Publikováno v: Ellingford, J, Barton, S, Bhaskar, S, Williams, S, Sergouniotis, P, O'Sullivan, J, Lamb, J, Perveen, R, Hall, G, Newman, W, Bishop, P, Roberts, S, Leach, R, Tearle, R, Bayliss, S, Ramsden, S, Nemeth, A H & Black, G 2016, ' Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease ', Ophthalmology, vol. 123, no. 5, pp. 1143–1150 . https://doi.org/10.1016/j.ophtha.2016.01.009
Ophthalmology

PURPOSE:To compare the efficacy of whole genome sequencing (WGS) with targeted next-generation sequencing (NGS) in the diagnosis of inherited retinal disease (IRD).DESIGN:Case series.PARTICIPANTS:A total of 562 patients diagnosed with IRD.METHODS:We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed636f1de891f96e5d07d7549938e2d6
https://doi.org/10.1016/j.ophtha.2016.01.009

BRCA1/2 mutation analysis in male breast cancer families from North West England

Autor: D G R Evans, Fiona Lalloo, Emma Howard, Mike Bulman, Karen Young, Stuart Bayliss, Andrew J Wallace

Publikováno v: Familial cancer. 7(2)

64 families with a history of male breast cancer aged 60 or less or with a family history of male and female breast cancer were screened for the presence of BRCA1 and BRCA2 mutations. Seventeen pathogenic BRCA2 and four BRCA1 mutations were identifie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::833b0fe782d25b6869d963eedcce23b9
https://pubmed.ncbi.nlm.nih.gov/17636422