Zobrazeno 1 - 10
of 1 660
pro vyhledávání: '"Costain, A."'
Regression analysis under the assumption of monotonicity is a well-studied statistical problem and has been used in a wide range of applications. However, there remains a lack of a broadly applicable methodology that permits information borrowing, fo
Externí odkaz:
http://arxiv.org/abs/2305.17711
Prior works have demonstrated that implicit representations trained only for reconstruction tasks typically generate encodings that are not useful for semantic tasks. In this work, we propose a method that contextualises the encodings of implicit rep
Externí odkaz:
http://arxiv.org/abs/2305.13312
Autor:
K. A. Stark, G. Rinaldi, A. Costain, S. Clare, C. Tolley, A. Almeida, C. McCarthy, K. Harcourt, C. Brandt, T. D. Lawley, M. Berriman, A. S. MacDonald, J. E. Forde-Thomas, B. J. Hulme, K. F. Hoffmann, C. Cantacessi, A. Cortés
Publikováno v:
Animal Microbiome, Vol 6, Iss 1, Pp 1-19 (2024)
Abstract Mounting evidence of the occurrence of direct and indirect interactions between the human blood fluke, Schistosoma mansoni, and the gut microbiota of rodent models raises questions on the potential role(s) of the latter in the pathophysiolog
Externí odkaz:
https://doaj.org/article/00b9a9d991ae49ddba6d0fd576bc8ed2
Autor:
Trevor Jamieson, Kevin Thorpe, Francois Bernier, Melyssa Aronson, Marc Clausen, Rita Kodida, Emma Reble, June C Carroll, Jordan Lerner-Ellis, Yvonne Bombard, Matthew Osmond, Muhammad Mamdani, Ronald Cohn, Emily Seto, Hanna Faghfoury, Josh Silver, Maureen Smith, Lauren Chad, Jan M Friedman, Robin Z Hayeems, Michael Brudno, Gregory Costain, Quynh Pham, Anne-Marie Laberge, Christian Marshall, Cheryl Shuman, Rebekah Jobling, Irfan Dhalla, Serena Shastri-Estrada, Daniel Assamad, Stephanie Luca, Stacy Hewson, Eriskay Liston, Frank Rudzicz, Wendy Ungar, Guylaine D'Amours
Publikováno v:
BMJ Open, Vol 14, Iss 9 (2024)
Introduction Genetic testing is used across medical disciplines leading to unprecedented demand for genetic services. This has resulted in excessive waitlists and unsustainable pressure on the standard model of genetic healthcare. Alternative models
Externí odkaz:
https://doaj.org/article/8affa2793f8c4b6b9384324d8a29b5cd
Publikováno v:
Journal of Chemical Physics; 9/21/2024, Vol. 161 Issue 11, p1-19, 19p
We present ApproxConv, a novel method for compressing the layers of a convolutional neural network. Reframing conventional discrete convolution as continuous convolution of parametrised functions over space, we use functional approximations to captur
Externí odkaz:
http://arxiv.org/abs/2210.08951
Autor:
Debjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, Arnab China, Krishnendu Khan, Fabio Cumbo, Dalia Halawani, Fulvia Terenzi, Isaac Zin, Briana Long, Gregory Costain, Susan Blaser, Amanda Carnevale, Valentin Gogonea, Ranjan Dutta, Daniel Blankenberg, Grace Yoon, Paul L. Fox
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-24 (2024)
Abstract Hypomyelinating leukodystrophy (HLD) is an autosomal recessive disorder characterized by defective central nervous system myelination. Exome sequencing of two siblings with severe cognitive and motor impairment and progressive hypomyelinatio
Externí odkaz:
https://doaj.org/article/3f6584a19f4b41cfbb1ed508918c473a
Autor:
Ali AlMail, Ahmed Jamjoom, Amy Pan, Min Yi Feng, Vann Chau, Alissa M. D’Gama, Katherine Howell, Nicole S. Y. Liang, Amy McTague, Annapurna Poduri, Kimberly Wiltrout, IPCHiP Executive Committee, Anne S. Bassett, John Christodoulou, Lucie Dupuis, Peter Gill, Tess Levy, Paige Siper, Zornitza Stark, Jacob A. S. Vorstman, Catherine Diskin, Natalie Jewitt, Danielle Baribeau, Gregory Costain
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-8 (2024)
Abstract Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-driven ascertainment of novel genetic conditions. The degree to which reported phenotype data in discovery-focused studies address informational prio
Externí odkaz:
https://doaj.org/article/eae52b7f6c0e4510972101b0a0c567aa
Autor:
Rachel Y. Oh, Ali AlMail, David Cheerie, George Guirguis, Huayun Hou, Kyoko E. Yuki, Bushra Haque, Bhooma Thiruvahindrapuram, Christian R. Marshall, Roberto Mendoza-Londono, Adam Shlien, Lianna G. Kyriakopoulou, Susan Walker, James J. Dowling, Michael D. Wilson, Gregory Costain
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100299- (2024)
Summary: Canonical splice site variants (CSSVs) are often presumed to cause loss-of-function (LoF) and are assigned very strong evidence of pathogenicity (according to American College of Medical Genetics/Association for Molecular Pathology criterion
Externí odkaz:
https://doaj.org/article/e106843364294daeb3b48f75146bc982
Autor:
Kristen M. Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L. Taylor, John Belmont, David Bick, David Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J. Taft
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-11 (2024)
Abstract Early use of genome sequencing (GS) in the diagnostic odyssey can reduce suffering and improve care, but questions remain about which patient populations are most amenable to GS as a first-line diagnostic test. To address this, the Medical G
Externí odkaz:
https://doaj.org/article/27365d57311546bc828aa98a13d450ea