Balancing ACT: weighing prior dependency and global tensions of DR6 lensing with other datasets

Autor: Ormondroyd, A. N., Handley, W. J., Hobson, M. P., Lasenby, A. N.

We provide a complementary nested sampling analysis for the Atacama Cosmology Telescope lensing data release 6. This allows the quantification of global consistency statistics between ACT lensing and alternative datasets. In the context of flat $\Lam

Externí odkaz: http://arxiv.org/abs/2310.08490

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Autor: Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor

Publikováno v: Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)

Abstract Background Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly l

Externí odkaz: https://doaj.org/article/c9f00f4d0c70402d8c69f3f7e4981fbc

Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure

Autor: Nolan, Joshua, Buchanan, James, Taylor, John, Almeida, Joao, Bedenham, Tina, Blair, Edward, Broadgate, Suzanne, Butler, Samantha, Cazeaux, Angela, Craft, Judith, Cranston, Treena, Crawford, Gillian, Forrest, Jamie, Gabriel, Jessica, George, Elaine, Gillen, Donna, Haeger, Ash, Hastings Ward, Jillian, Hawkes, Lara, Hodgkiss, Claire, Hoffman, Jonathan, Jones, Alan, Karpe, Fredrik, Kasperaviciute, Dalia, Kovacs, Erika, Leigh, Sarah, Limb, Elizabeth, Lloyd-Jani, Anjali, Lopez, Javier, Lucassen, Anneke, McFarlane, Carlos, O’Rourke, Anthony W., Pond, Emily, Sherman, Catherine, Stewart, Helen, Thomas, Ellen, Thomas, Simon, Thomas, Tessy, Thomson, Kate, Wakelin, Hannah, Walker, Susan, Watson, Melanie, Williams, Eleanor, Ormondroyd, Elizabeth

Publikováno v: In Genetics in Medicine March 2024 26(3)

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings

Autor: McGurk, Kathryn A., Zhang, Xiaolei, Theotokis, Pantazis, Thomson, Kate, Harper, Andrew, Buchan, Rachel J., Mazaika, Erica, Ormondroyd, Elizabeth, Wright, William T., Macaya, Daniela, Pua, Chee Jian, Funke, Birgit, MacArthur, Daniel G., Prasad, Sanjay K., Cook, Stuart A., Allouba, Mona, Aguib, Yasmine, Yacoub, Magdi H., O'Regan, Declan P., Barton, Paul J.R., Watkins, Hugh, Bottolo, Leonardo, Ware, James S.

Publikováno v: In The American Journal of Human Genetics 7 September 2023 110(9):1482-1495

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