How Can We Not Waste Legacy Genomic Research Data?

Autor: Susan E. Wallace, Emily Kirby, Bartha Maria Knoppers

Publikováno v: Frontiers in Genetics, Vol 11 (2020)

Enabling genomic and biomedical data to be shared for secondary research purposes is not always straightforward for existing “legacy” data sets. Researchers may not know whether their data meet ethical and regulatory requirements for sharing. As

Externí odkaz: https://doaj.org/article/c0a910c72e1242878020f15b6f793989

Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery

Autor: Hannah G, Driver, Taila, Hartley, E Magda, Price, Andrei L, Turinsky, Orion J, Buske, Matthew, Osmond, Arun K, Ramani, Emily, Kirby, Kristin D, Kernohan, Madeline, Couse, Hillary, Elrick, Kevin, Lu, Pouria, Mashouri, Aarthi, Mohan, Delvin, So, Conor, Klamann, Hannah G B H, Le, Andrea, Herscovich, Christian R, Marshall, Andrew, Statia, Care Rare, Canada Consortium, Bartha M, Knoppers, Michael, Brudno, Kym M, Boycott

Publikováno v: Human mutation. 43(6)

Despite recent progress in the understanding of the genetic etiologies of rare diseases (RDs), a significant number remain intractable to diagnostic and discovery efforts. Broad data collection and sharing of information among RD researchers is there

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2509daedec9a1cd7a4cbef0069405502
https://pubmed.ncbi.nlm.nih.gov/35181971

Human Developmental Cell Atlas: milestones achieved and the roadmap ahead

Autor: Mats Nilsson, Kathy K. Niakan, Anna Hupalowska, Kerstin B. Meyer, Dana Pe'er, Jennifer Rood, Andrew J. Copp, Bruce J. Aronow, Pablo G. Camara, Sten Linnarsson, Paolo Giacobini, Emily Kirby, Rahul Satija, Berthold Göttgens, Heather C. Etchevers, Bayanne Olabi, Joakim Lundeberg, Orit Rozenblatt-Rosen, Roser Vento-Tormo, Aviv Regev, John C. Marioni, Arnold R. Kriegstein, Gary D. Bader, Deanne Taylor, Simone Webb, Barbara Treutlein, J. Gray Camp, Alain Chédotal, Muzlifah Haniffa, Guoji Guo, Kylie R. James, Sarah A. Teichmann

The Human Developmental Cell Atlas (HDCA), as part of the Human Cell Atlas, aims to generate a comprehensive reference map of cells during development. This detailed study of development will be critical for understanding normal organogenesis, the im

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::aed3310293ece245dcaf0300e9c15189
https://doi.org/10.21203/rs.3.rs-73986/v1

The Gatekeeping Function in Personalized Medicine Initiatives

Autor: Bartha Maria Knoppers, Anne-Marie Tassé, Yann Joly, Emily Kirby, Pavel Hamet, Gratien Dalpé, Ida Ngueng Feze, Johanne Tremblay, Michael S. Phillips

Publikováno v: Current Pharmacogenomics and Personalized Medicine. 14:36-49

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::75772e95a49bd0059d4dadfa4d41adda
https://doi.org/10.2174/187569211401170116202755

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Autor: Christian R. Marshall, Annette Estes, John Wei, Janet A. Buchanan, Jennifer L. Howe, Christina Chrysler, Weili Li, Tara Paton, Fiona Tsoi, Zhuozhi Wang, Brendan J. Frey, Eric Deneault, Edwin H. Cook, William Van Etten, Stephen W. Scherer, Mohammed Uddin, Mayada Elsabbagh, Emily Kirby, Sylvia Lamoureux, Cheryl Cytrynbaum, Bhooma Thiruvahindrapuram, Mathew T. Pletcher, Lonnie Zwaigenbaum, Wilson W L Sung, Angie Fedele, Daniele Merico, Bartha Maria Knoppers, Ryan K. C. Yuen, Marc Woodbury-Smith, Worrawat Engchuan, Vicki Seifer, Isabel M. Smith, Barbara Kellam, Bonnie Mackinnon Modi, Stephanie Koyanagi, Bridget A. Fernandez, James T. Robinson, Karen Ho, Edward J Higginbotham, Joe Whitney, Krissy A.R. Doyle-Thomas, Beth A. Malow, Susan Walker, Jeremy R. Parr, Louise Gallagher, Rob Nicolson, Jonathan Bingham, Thomas Nalpathamkalam, Lia D’Abate, Sanne Jilderda, Matt Bookman, Jessica Brian, Sarah J. Spence, Ann Thompson, Jonathan Leef, Rosanna Weksberg, Jacob A. S. Vorstman, Tal Savion-Lemieux, Anne Marie Tassé, Peter Szatmari, Alana Iaboni, Xudong Liu, Evdokia Anagnostou, Jeffrey R. MacDonald, Ny Hoang, Mehdi Zarrei, Lizhen Xu, Simon N. Twigger, Robert H. Ring, Stephen R. Dager, Melissa T. Carter, Irene Drmic, Michael J. Szego, Wendy Roberts, Lili Senman, Giovanna Pellecchia, Rohan V. Patel, Sergio L. Pereira, Joachim Hallmayer, David Glazer, Lisa J. Strug, Ada J.S. Chan, Nicole A. Deflaux

Publikováno v: Nature Neuroscience, 20(4), 602. Nature Publishing Group
Paediatrics Publications

We are performing whole genome sequencing (WGS) of families with Autism Spectrum Disorder (ASD) to build a resource, named MSSNG, to enable the sub-categorization of phenotypes and underlying genetic factors involved. Here, we report WGS of 5,205 sam

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b63f8e721122ea3d6acab7f7535d5d8f
https://europepmc.org/articles/PMC5501701/