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: 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

Single-cell paired-end genome sequencing reveals structural variation per cell cycle

Autor: P. Andrew Futreal, Susanna L. Cooke, Masoud Zamani Esteki, Ligia Mateiu, Jon W. Teague, Niels Van der Aa, Adam Butler, Meng-Lay Lin, Michael R. Stratton, Thierry Voet, David J. McBride, Yves Moreau, Joris Vermeesch, Peter Van Loo, Graham R. Bignell, Parveen Kumar, Michael A. Quail, Thomas D'Hooghe, Stuart McLaren, Peter J. Campbell, Keiran Raine, John Marshall, Lucy Stebbings

Publikováno v: Nucleic Acids Research

The nature and pace of genome mutation is largely unknown. Because standard methods sequence DNA from populations of cells, the genetic composition of individual cells is lost, de novo mutations in cells are concealed within the bulk signal and per c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd42b2c32edbf4c22263254c77c56bd4
http://europepmc.org/articles/PMC3695511

Genome Sequencing and Analysis of the Tasmanian Devil and Its Transmissible Cancer

Autor: Graham R. Bignell, Thomas R. Connor, Ludmil B. Alexandrov, Lisa Murray, Sean Humphray, Bee Ling Ng, Geoffrey Paul Smith, Wendy S.W. Wong, Zemin Ning, Michael R. Stratton, Shujun Luo, Zhi-Ping Feng, Anthony J. Cox, Peter J. Campbell, Philip Tedder, Albert J. Vilella, Niall Anthony Gormley, David J. McBride, Simon R. Harris, Keiran Raine, Bronwen Aken, Elizabeth P. Murchison, R. Keira Cheetham, Carolyn Tregidgo, Matthew M. Hims, P. Andrew Futreal, Sergii Ivakhno, Dirk J. Evers, Markus J. Bauer, Isabelle Rasolonjatovo, Yong Gu, Zoya Kingsbury, Simon D. M. White, William Cheng, Fengtang Yang, Anne-Maree Pearse, Amber E. Alsop, Beiyuan Fu, Gregory M. Woods, Gary P. Schroth, Stephen M. J. Searle, Kevin Hall, Mark Kowarsky, David R. Bentley, David C. Wedge, Irina Khrebtukova, Ole Schulz-Trieglaff, Jennifer Becq, Caitlin Stewart, Nigel P. Carter, Richard Shaw, John Marshall, Alexandre Kreiss, Zhihao Ding, Anthony T. Papenfuss, Russell J. Grocock

Publikováno v: Cell

Summary The Tasmanian devil (Sarcophilus harrisii), the largest marsupial carnivore, is endangered due to a transmissible facial cancer spread by direct transfer of living cancer cells through biting. Here we describe the sequencing, assembly, and an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd7569c1e9d8f2b6e974e32cc2b7c49c

Complex landscapes of somatic rearrangement in human breast cancer genomes

Autor: John W.M. Martens, Michael R. Stratton, Catherine Leroy, Meng-Lay Lin, Laura van 't Veer, Mingming Jia, Sarah Edkins, Laura Mudie, Anita Langerød, Harold Swerdlow, Daniel P. Silver, Peter J. Campbell, Jorge S. Reis-Filho, John A. Foekens, Carol Churcher, Lucy Stebbings, Erin Pleasance, Anieta M. Sieuwerts, David J. McBride, Hege G. Russnes, King Wai Lau, Jared T. Simpson, Christopher Greenman, Jon W. Teague, Rachael Natrajan, Calli Latimer, Philip J. Stephens, Andrea L. Richardson, Anne Lise Børresen-Dale, Ignacio Varela, John Burton, P. Andrew Futreal, Michael A. Quail

Publikováno v: Nature, vol 462, iss 7276
Nature, 462(7276), 1005-U60. Nature Publishing Group
Nature

SUMMARY Multiple somatic rearrangements are often found in cancer genomes. However, the underlying processes of rearrangement and their contribution to cancer development are poorly characterised. Here, we employed a paired-end sequencing strategy to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36cba1b2a24ae0e4d63d4f39e7340d04
https://doi.org/10.1038/nature08645