Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Nick, Camm"'
Autor:
David T. Bonthron, Rachel Robinson, Rowena E. Mitchell, Christopher M. Watson, Sérgio D.J. Pena, George A. Tanteles, Laura A. Crinnion, Helen Lindsay, Ian M. Carr, Nick Camm, Domhnall J. O' Halloran, Caroline Joyce
Publikováno v:
Laboratory Investigation. 101:442-449
Short-read next generation sequencing (NGS) has become the predominant first-line technique used to diagnose patients with rare genetic conditions. Inherent limitations of short-read technology, notably for the detection and characterization of compl
Autor:
Philip Dean, Jennifer Bates, Carol A. Gardiner, Nick Camm, David T. Bonthron, Ian M. Carr, Christopher M. Watson
Publikováno v:
Human Mutation. 41:525-531
The diagnostic deployment of massively parallel short‐read next‐generation sequencing (NGS) has greatly improved genetic test availability, speed, and diagnostic yield, particularly for rare inherited disorders. Nonetheless, diagnostic approaches
Autor:
Gareth Forbes, Aimee Potter, Danielle Reay, Peter E. Carey, Lorna Ingoe, Dermot Neely, Susan Musson, Ahai Luvai, Guy Pilkington, Nick Camm, C. McAnulty, Ian R. Berry, Julia L. Newton, A Joy Allen, Jody Nichols
Publikováno v:
Atherosclerosis. 325
Objectives To validate a nurse-led process using electronic health records to identify those at risk of Familial Hypercholesterolaemia (FH) for genetic diagnosis in primary care. Design Those at risk of FH were identified using searches developed and
Autor:
David T. Bonthron, Christopher M. Watson, Julian Adlard, Jennifer Simmonds, Nick Camm, Laura A. Crinnion
Publikováno v:
Cancer genetics.
Targeted next generation sequencing (NGS) is the predominant methodology for the molecular genetic diagnosis of inherited conditions. In many laboratories, NGS-identified variants are routinely validated using a different method, to minimize the risk
Autor:
Christopher M, Watson, Laura A, Crinnion, Helen, Lindsay, Rowena, Mitchell, Nick, Camm, Rachel, Robinson, Caroline, Joyce, George A, Tanteles, Domhnall J O', Halloran, Sergio D J, Pena, Ian M, Carr, David T, Bonthron
Publikováno v:
Laboratory investigation; a journal of technical methods and pathology. 101(4)
Short-read next generation sequencing (NGS) has become the predominant first-line technique used to diagnose patients with rare genetic conditions. Inherent limitations of short-read technology, notably for the detection and characterization of compl
Autor:
Samuel Clokie, Ruth Charlton, David T. Bonthron, Nick Camm, Laura A. Crinnion, Rachel Robinson, Alexander F. Markham, Christopher M. Watson, Ian M. Carr, Julian Adlard
Publikováno v:
Molecular Diagnosis & Therapy. 21:685-692
Diagnostic genetic testing programmes based on next-generation DNA sequencing have resulted in the accrual of large datasets of targeted raw sequence data. Most diagnostic laboratories process these data through an automated variant-calling pipeline.
Autor:
Eamonn Sheridan, Anne Marie Childs, Dan Warren, Helen McCullagh, Ian R. Berry, Katrina Prescott, Lydia Green, Nick Camm, Marjo S. van der Knaap, Ian Craven, John H. Livingston, Sandhya Jose
Publikováno v:
Neuropediatrics, 49(2), 118-122. Hippokrates Verlag GmbH
Green, L, Berry, I R, Childs, A M, Mccullagh, H, Jose, S, Warren, D, Craven, I, Camm, N, Prescott, K, van der Knaap, M S, Sheridan, E & Livingston, J H 2018, ' Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease ', Neuropediatrics, vol. 49, no. 2, pp. 118-122 . https://doi.org/10.1055/s-0037-1608921
Green, L, Berry, I R, Childs, A M, Mccullagh, H, Jose, S, Warren, D, Craven, I, Camm, N, Prescott, K, van der Knaap, M S, Sheridan, E & Livingston, J H 2018, ' Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease ', Neuropediatrics, vol. 49, no. 2, pp. 118-122 . https://doi.org/10.1055/s-0037-1608921
Alexander disease (AD) is a leukodystrophy caused by heterozygous mutations in the gene encoding the glial fibrillary acidic protein (GFAP). Currently, de novo heterozygous missense mutations in the GFAP gene are identified in over 95% of patients wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3126baf0b8a6d8f1e347258525ae2fea
https://research.vumc.nl/en/publications/62faa8d6-af84-45d2-816d-42ec3e9e2ba1
https://research.vumc.nl/en/publications/62faa8d6-af84-45d2-816d-42ec3e9e2ba1
Autor:
Nick Camm, David T. Bonthron, Ian M. Carr, Julian Adlard, Ruth Charlton, Agne Antanaviciute, Christopher M. Watson, Alexander F. Markham, Laura A. Crinnion
Publikováno v:
Journal of Molecular Diagnostics. 19(6)
Like many clinical diagnostic laboratories, the Yorkshire Regional Genetics Service undertakes routine investigation of cancer-predisposed individuals by high-throughput sequencing of patient DNA that has been target-enriched for genes associated wit
Autor:
Nick Camm, Sally M. Harrison, Christopher M. Watson, Joanne E. Morgan, Helen Lindsay, Ian M. Carr, David T. Bonthron, Eamonn Sheridan, Graham R. Taylor, Julian Adlard, Ruth Charlton, Christine P. Diggle, Laura A. Crinnion
Publikováno v:
Human Mutation
Targeted hybridization enrichment prior to next-generation sequencing is a widespread method for characterizing sequence variation in a research setting, and is being adopted by diagnostic laboratories. However, the number of variants identified can
Autor:
Graham R. Taylor, Nick Camm, Eamonn Sheridan, Sian Ellard, Alexander F. Markham, David T. Bonthron, Ian M. Carr, Ruth Charlton
Publikováno v:
Journal of Medical Genetics. 48:123-130
Background While massively parallel DNA sequencing methods continue to evolve rapidly, the benchmark technique for detection and verification of rare (particularly disease-causing) sequence variants remains four-colour dye-terminator sequencing by ca