A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship

Autor: Rachel Austin, Jaye S. Brown, Sarah Casauria, Evanthia O. Madelli, Tessa Mattiske, Tiffany Boughtwood, Alejandro Metke, Andrew Davis, Ari E. Horton, David Winlaw, Debjani Das, Magdalena Soka, Eleni Giannoulatou, Emma M. Rath, Eric Haan, Gillian M. Blue, Jitendra Vohra, John J. Atherton, Karin van Spaendonck-Zwarts, Kathy Cox, Leslie Burnett, Mathew Wallis, Matilda Haas, Michael C.J. Quinn, Nicholas Pachter, Nicola K. Poplawski, Zornitza Stark, Richard D. Bagnall, Robert G. Weintraub, Sarah-Jane Pantaleo, Sebastian Lunke, Paul De Fazio, Tina Thompson, Paul James, Yuchen Chang, Diane Fatkin, Ivan Macciocca, Jodie Ingles, Sally L. Dunwoodie, Chris Semsarian, Julie McGaughran, Lesley Ades, Annabel Enriquez, Alison McLean, Renee Smyth, Dimithu Alankarage, James McNamara, Morgan almog, Vanessa Fear, Caroline Medi, Mohammad Al-Shinnag, Miriam Fine, Raymond Sy, Keri Finlay, Di Milnes, Dotti Tang, Denisse Garza, Michael Milward, Jessica Taylor, Ansley Morrish, Shelby Taylor, Chris Barnett, Laura Gongolidis, Jim Morwood, Michel Tchan, Belinda Gray, Helen Mountain, Simon Bodek, Cassie Greer, David Mowat, Jordan Thorpe, Kirsten Boggs, Chai-Ann Ng, Alison Trainer, Michael Bogwitz, Mathilda Haas, Natalie Nowak, Gunjan Trivedi, Bernadette Hanna, Noelia Nunez Martinez, Giulia Valente, Alessandra Bray, Richard Harvey, Monique Ohanian, Marie-Jo Brion, Janette Hayward, Sinead O’Sullivan, Jamie Vandenberg, Jaye Brown, Carmen Herrera, Angela Overkov, Kunal Verma, Rob Bryson Richardson, Adam Hill, Miranda Vidgen, Georgie Hollingsworth, Chirag Patel, Charlotte Burns, Georgina Hollway, Mark Perrin, Kathryn Waddel-Smith, Michelle Cao, Matthew Perry, Will Carr, Denise Howting, Andreas Pflaumer, Peta Phillips, Meredith Wilson, Heather Chalinor, Joanne Isbister, Thuan Phuong, Matilda Jackson, Rachel Pope-Couston, Lisa Worgan, Gavin Chapman, Linda Wornham, Theosodia Charitou, Sarah Jane-Pantaleo, Preeti Punni, Kathy Wu, Belinda Chong, Renee Johnson, Laura Yeates, Felicity Collins, Andrew Kelly, Michael Quinn, Dominica Zentner, Gemma Correnti, Sarah King-Smith, Sulekha Rajagopalan, Edwin Kirk, Hariharan Raju, Fiona Cunningham, Sarah Kummerfeld, Timo Lassman, Matthew Regan, Jason Davis, Jonathon Lipton, Jonathan Rogers, Mark Ryan, Sarah Sandaradura, Michelle de Silva, Paul MacIntyre, Nicole Schonrock, Nicola Den Elzen, Paul Scuffham, Sophie Devery, Amali Mallawaarachchi, Julia Dobbins, Julia Mansour, Isabella Sherburn, Ellenore Martin, Mary-Clare Sherlock, Nathan Dwyer, Jacob Mathew, Emma Singer, Stefanie Elbracht-Leong, Carla Smerdon, David Elliott, Janine Smith

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101842- (2024)

Purpose: The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics to resolve variants of uncertain significance

Externí odkaz: https://doaj.org/article/c9654afa9dea4d2db6eb639d8979bf14

Excess mortality at Christmas due to cardiovascular disease in the HUNT study prospective population-based cohort in Norway

Autor: Trine Moholdt, Clifford Afoakwah, Paul Scuffham, Christine F. McDonald, Louise M. Burrell, Simon Stewart

Publikováno v: BMC Public Health, Vol 21, Iss 1, Pp 1-11 (2021)

Abstract Background Although it is known that winter inclusive of the Christmas holiday period is associated with an increased risk of dying compared to other times of the year, very few studies have specifically examined this phenomenon within a pop

Externí odkaz: https://doaj.org/article/abc3141a2dbe42a0b4faa7fc34909528

Benchmarking hospital safety and identifying determinants of hospital-acquired complication: the case of Queensland cardiac linkage longitudinal cohort

Autor: Son Nghiem, Clifford Afoakwah, Paul Scuffham, Joshua Byrnes

Publikováno v: Infection Prevention in Practice, Vol 4, Iss 1, Pp 100198- (2022)

Summary: Background: Hospital-acquired complications (HACs) are costly and associated with adverse health outcomes, although they can be avoided. Administrative linkage health data have become more accessible and can be used to monitor and reduce HAC

Externí odkaz: https://doaj.org/article/92fb9e7701a1436eb61734862dcc3089

A framework for economic evaluation of therapeutic drug monitoring—guided dosing in oncology

Autor: Daniel Erku, Jennifer Schneider, Paul Scuffham

Publikováno v: Pharmacology Research & Perspectives, Vol 9, Iss 5, Pp n/a-n/a (2021)

Abstract The standard approach for dose individualization of chemotherapy in the oncology setting has long been based on body surface area (BSA) as a measure of body size. However, for many anticancer drugs, administration of dosages based on BSA may

Externí odkaz: https://doaj.org/article/4cb74d7419184c139d1f9e507ac548a9

Clinical utility of reproductive carrier screening for preconception and pregnant couples for multiple genetic conditions: a systematic review and meta-analysis

Autor: Tianjiao Wang, Debra Kiss, Kathleen McFadden, Joshua Byrnes, Paul Scuffham, Martin B Delatycki, Martin Downes

Publikováno v: Expert Review of Molecular Diagnostics. 23:419-429

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bc9280a5df0bd193671bb2b9b9e3729c
https://doi.org/10.1080/14737159.2023.2206519