Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen

Autor: David J. McBride, Claire Fielding, Taksina Newington, Alexandra Vatsiou, Harry Fischl, Maya Bajracharya, Vicki S. Thomson, Louise J. Fraser, Pauline A. Fujita, Jennifer Becq, Zoya Kingsbury, Mark T. Ross, Stuart J. Moat, Sian Morgan

Publikováno v: International Journal of Neonatal Screening, Vol 9, Iss 3, p 52 (2023)

The collection of dried blood spots (DBS) facilitates newborn screening for a variety of rare, but very serious conditions in healthcare systems around the world. Sub-punches of varying sizes (1.5–6 mm) can be taken from DBS specimens to use as inp

Externí odkaz: https://doaj.org/article/1d0d217ac1d54d599cdda8b46aabf21d

Detection of ctDNA in plasma of patients with clinically localised prostate cancer is associated with rapid disease progression

Autor: Edmund Lau, Patrick McCoy, Fairleigh Reeves, Ken Chow, Michael Clarkson, Edmond M. Kwan, Kate Packwood, Helen Northen, Miao He, Zoya Kingsbury, Stefano Mangiola, Michael Kerger, Marc A. Furrer, Helen Crowe, Anthony J. Costello, David J. McBride, Mark T. Ross, Bernard Pope, Christopher M. Hovens, Niall M. Corcoran

Publikováno v: Genome Medicine, Vol 12, Iss 1, Pp 1-11 (2020)

Abstract Background DNA originating from degenerate tumour cells can be detected in the circulation in many tumour types, where it can be used as a marker of disease burden as well as to monitor treatment response. Although circulating tumour DNA (ct

Externí odkaz: https://doaj.org/article/dff3ff03bc4d479295f4bcd8450cf3d3

Erratum: The somatic mutation profiles of 2,433 breast cancers refine their genomic and transcriptomic landscapes

Autor: Bernard Pereira, Suet-Feung Chin, Oscar M. Rueda, Hans-Kristian Moen Vollan, Elena Provenzano, Helen A. Bardwell, Michelle Pugh, Linda Jones, Roslin Russell, Stephen-John Sammut, Dana W. Y. Tsui, Bin Liu, Sarah-Jane Dawson, Jean Abraham, Helen Northen, John F. Peden, Abhik Mukherjee, Gulisa Turashvili, Andrew R. Green, Steve McKinney, Arusha Oloumi, Sohrab Shah, Nitzan Rosenfeld, Leigh Murphy, David R. Bentley, Ian O. Ellis, Arnie Purushotham, Sarah E. Pinder, Anne-Lise Børresen-Dale, Helena M. Earl, Paul D. Pharoah, Mark T. Ross, Samuel Aparicio, Carlos Caldas

Publikováno v: Nature Communications, Vol 7, Iss 1, Pp 1-1 (2016)

Nature Communications 7 Article number:11479 (2016); Published: 10 May 2016; Updated: 6 June 2016. The original version of this Article contained an error in the spelling of ‘refine’ in the title of the paper. This has now been corrected in both

Externí odkaz: https://doaj.org/article/fc891aa190c54d0ab21e7f9f06b96eb9

Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial

Autor: Claire Schwab, Ruth E. Cranston, Sarra L. Ryan, Ellie Butler, Emily Winterman, Zoe Hawking, Matthew Bashton, Amir Enshaei, Lisa J. Russell, Zoya Kingsbury, John F. Peden, Emilio Barretta, James Murray, Jude Gibson, Andrew C. Hinchliffe, Robert Bain, Ajay Vora, David R. Bentley, Mark T. Ross, Anthony V. Moorman, Christine J. Harrison

Publikováno v: Leukemia. 37:529-538

Incorporating genetics into risk-stratification for treatment of childhood B-progenitor acute lymphoblastic leukaemia (B-ALL) has contributed significantly to improved survival. In about 30% B-ALL (B-other-ALL) without well-established chromosomal ch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60403edb6229c7170ae8763141d22df5
https://doi.org/10.1038/s41375-022-01799-4

Detection of ctDNA in plasma of patients with clinically localised prostate cancer is associated with rapid disease progression

Autor: Michael J Clarkson, Fairleigh Reeves, Miao He, Patrick McCoy, Edmond M. Kwan, Ken Chow, Bernard J. Pope, Mark T. Ross, Christopher M. Hovens, Zoya Kingsbury, Helen Northen, Michael Kerger, Stefano Mangiola, David J. McBride, Niall M. Corcoran, Anthony J. Costello, Marc A. Furrer, Edmund Lau, Kate Packwood, Helen Crowe

Publikováno v: Lau, Edmund; McCoy, Patrick; Reeves, Fairleigh; Chow, Ken; Clarkson, Michael; Kwan, Edmond M; Packwood, Kate; Northen, Helen; He, Miao; Kingsbury, Zoya; Mangiola, Stefano; Kerger, Michael; Furrer, Marc A.; Crowe, Helen; Costello, Anthony J; McBride, David J; Ross, Mark T; Pope, Bernard; Hovens, Christopher M and Corcoran, Niall M (2020). Detection of ctDNA in plasma of patients with clinically localised prostate cancer is associated with rapid disease progression. Genome medicine, 12(1), p. 72. BioMed Central 10.1186/s13073-020-00770-1
Genome Medicine
Genome Medicine, Vol 12, Iss 1, Pp 1-11 (2020)

Background DNA originating from degenerate tumour cells can be detected in the circulation in many tumour types, where it can be used as a marker of disease burden as well as to monitor treatment response. Although circulating tumour DNA (ctDNA) meas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b43712b3cd2c28b9f0f85ac2f1b486b
https://doi.org/10.1186/s13073-020-00770-1