The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges

Autor: Alex J. Ashenden, Ayesha Chowdhury, Lucy T. Anastasi, Khoa Lam, Tomas Rozek, Enzo Ranieri, Carol Wai-Kwan Siu, Jovanka King, Emilie Mas, Karin S. Kassahn

Publikováno v: International Journal of Neonatal Screening, Vol 10, Iss 3, p 42 (2024)

Newborn screening programs have seen significant evolution since their initial implementation more than 60 years ago, with the primary goal of detecting treatable conditions within the earliest possible timeframe to ensure the optimal treatment and o

Externí odkaz: https://doaj.org/article/82f9d5cf91b5471e9cd48023797b39a0

Lost in translation: returning germline genetic results in genome-scale cancer research

Autor: Amber L. Johns, Skye H. McKay, Jeremy L. Humphris, Mark Pinese, Lorraine A. Chantrill, R. Scott Mead, Katherine Tucker, Lesley Andrews, Annabel Goodwin, Conrad Leonard, Hilda A. High, Katia Nones, Ann-Marie Patch, Neil D. Merrett, Nick Pavlakis, Karin S. Kassahn, Jaswinder S. Samra, David K. Miller, David K. Chang, Marina Pajic, Australian Pancreatic Cancer Genome Initiative, John V. Pearson, Sean M. Grimmond, Nicola Waddell, Nikolajs Zeps, Anthony J. Gill, Andrew V. Biankin

Publikováno v: Genome Medicine, Vol 9, Iss 1, Pp 1-9 (2017)

Abstract Background The return of research results (RoR) remains a complex and well-debated issue. Despite the debate, actual data related to the experience of giving individual results back, and the impact these results may have on clinical care and

Externí odkaz: https://doaj.org/article/2890c395e52345e4baee26649c8cae4b

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Autor: Emma Tudini, James Andrews, David M. Lawrence, Sarah L. King-Smith, Naomi Baker, Leanne Baxter, John Beilby, Bruce Bennetts, Victoria Beshay, Michael Black, Tiffany F. Boughtwood, Kristian Brion, Pak Leng Cheong, Michael Christie, John Christodoulou, Belinda Chong, Kathy Cox, Mark R. Davis, Lucas Dejong, Marcel E. Dinger, Kenneth D. Doig, Evelyn Douglas, Andrew Dubowsky, Melissa Ellul, Andrew Fellowes, Katrina Fisk, Cristina Fortuno, Kathryn Friend, Renee L. Gallagher, Song Gao, Emma Hackett, Johanna Hadler, Michael Hipwell, Gladys Ho, Georgina Hollway, Amanda J. Hooper, Karin S. Kassahn, Rahul Krishnaraj, Chiyan Lau, Huong Le, Huei San Leong, Ben Lundie, Sebastian Lunke, Anthony Marty, Mary McPhillips, Lan T. Nguyen, Katia Nones, Kristen Palmer, John V. Pearson, Michael C.J. Quinn, Lesley H. Rawlings, Simon Sadedin, Louisa Sanchez, Andreas W. Schreiber, Emanouil Sigalas, Aygul Simsek, Julien Soubrier, Zornitza Stark, Bryony A. Thompson, James U, Cassandra G. Vakulin, Amanda V. Wells, Cheryl A. Wise, Rick Woods, Andrew Ziolkowski, Marie-Jo Brion, Hamish S. Scott, Natalie P. Thorne, Amanda B. Spurdle, Lauren Akesson, Richard Allcock, Katie Ashton, Damon A. Bell, Anna Brown, Michael Buckley, John R. Burnett, Linda Burrows, Alicia Byrne, Eva Chan, Corrina Cliffe, Roderick Clifton-Bligh, Susan Dooley, Miriam Fanjul Fernandez, Elizabeth Farnsworth, Thuong Ha, Denae Henry, Duncan Holds, Katherine Holman, Matilda Jackson, Sinlay Kang, Catherine Luxford, Sam McManus, Rachael Mehrtens, Cliff Meldrum, David Mossman, Sarah-Jane Pantaleo, Dean Phelan, Electra Pontikinas, Anja Ravine, Tony Roscioli, Rodney Scott, Keryn Simons, Oliver Vanwageningen

Publikováno v: Am J Hum Genet

Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3847493e457643efaf7244e001b19ac0
https://pubmed.ncbi.nlm.nih.gov/36332611

Targeting DNA Damage Response and Replication Stress in Pancreatic Cancer

Autor: Stephan B. Dreyer, Rosie Upstill-Goddard, Viola Paulus-Hock, Clara Paris, Eirini-Maria Lampraki, Eloise Dray, Bryan Serrels, Giuseppina Caligiuri, Selma Rebus, Dennis Plenker, Zachary Galluzzo, Holly Brunton, Richard Cunningham, Mathias Tesson, Craig Nourse, Ulla-Maja Bailey, Marc Jones, Kim Moran-Jones, Derek W. Wright, Fraser Duthie, Karin Oien, Lisa Evers, Colin J. McKay, Grant A. McGregor, Aditi Gulati, Rachel Brough, Ilirjana Bajrami, Stephan Pettitt, Michele L. Dziubinski, Juliana Candido, Frances Balkwill, Simon T. Barry, Robert Grützmann, Lola Rahib, Amber Johns, Marina Pajic, Fieke E.M. Froeling, Phillip Beer, Elizabeth A. Musgrove, Gloria M. Petersen, Alan Ashworth, Margaret C. Frame, Howard C. Crawford, Diane M. Simeone, Chris Lord, Debabrata Mukhopadhyay, Christian Pilarsky, David A. Tuveson, Susanna L. Cooke, Nigel B. Jamieson, Jennifer P. Morton, Owen J. Sansom, Peter J. Bailey, Andrew V. Biankin, David K. Chang, Sarah Allison, Dario Beraldi, Euan Cameron, Stephan Dreyer, Paul Grimwood, Shane Kelly, John Marshall, Sancha Martin, Brian McDade, Daniel McElroy, Donna Ramsay, Derek Wright, Marc D. Jones, Jane Hair, Paul Westwood, Nicola Williams, Amber L. Johns, Amanda Mawson, Christopher J. Scarlett, Mary-Anne L. Brancato, Sarah J. Rowe, Skye H. Simpson, Mona Martyn-Smith, Michelle T. Thomas, Lorraine A. Chantrill, Venessa T. Chin, Angela Chou, Mark J. Cowley, Jeremy L. Humphris, R. Scott Mead, Adnan M. Nagrial, Jessica Pettit, Mark Pinese, Ilse Rooman, Jianmin Wu, Jiang Tao, Renee DiPietro, Clare Watson, Angela Steinmann, Hong Ching Lee, Rachel Wong, Andreia V. Pinho, Marc Giry-Laterriere, Roger J. Daly, Robert L. Sutherland, Sean M. Grimmond, Nicola Waddell, Karin S. Kassahn, David K. Miller, Peter J. Wilson, Ann-Marie Patch, Sarah Song, Ivon Harliwong, Senel Idrisoglu, Ehsan Nourbakhsh, Suzanne Manning, Shivangi Wani, Milena Gongora, Matthew Anderson, Oliver Holmes, Conrad Leonard, Darrin Taylor, Scott Wood, Christina Xu, Katia Nones, J. Lynn Fink, Angelika Christ, Tim Bruxner, Nicole Cloonan, Felicity Newell, John V. Pearson, Peter Bailey, Michael Quinn, Shivashankar Nagaraj, Stephen Kazakoff, Nick Waddell, Keerthana Krisnan, Kelly Quek, David Wood, Jaswinder S. Samra, Anthony J. Gill, Nick Pavlakis, Alex Guminski, Christopher Toon, Ray Asghari, Neil D. Merrett, Darren Pavey, Amitabha Das, Peter H. Cosman, Kasim Ismail, Chelsie O’Connnor, Vincent W. Lam, Duncan McLeod, Henry C. Pleass, Arthur Richardson, Virginia James, James G. Kench, Caroline L. Cooper, David Joseph, Charbel Sandroussi, Michael Crawford, James Gallagher, Michael Texler, Cindy Forest, Andrew Laycock, Krishna P. Epari, Mo Ballal, David R. Fletcher, Sanjay Mukhedkar, Nigel A. Spry, Bastiaan DeBoer, Ming Chai, Nikolajs Zeps, Maria Beilin, Kynan Feeney, Nan Q. Nguyen, Andrew R. Ruszkiewicz, Chris Worthley, Chuan P. Tan, Tamara Debrencini, John Chen, Mark E. Brooke-Smith, Virginia Papangelis, Henry Tang, Andrew P. Barbour, Andrew D. Clouston, Patrick Martin, Thomas J. O’Rourke, Amy Chiang, Jonathan W. Fawcett, Kellee Slater, Shinn Yeung, Michael Hatzifotis, Peter Hodgkinson, Christopher Christophi, Mehrdad Nikfarjam, Angela Mountain, Victorian Cancer Biobank, James R. Eshleman, Ralph H. Hruban, Anirban Maitra, Christine A. Iacobuzio-Donahue, Richard D. Schulick, Christopher L. Wolfgang, Richard A. Morgan, Mary Hodgin, Aldo Scarpa, Rita T. Lawlor, Stefania Beghelli, Vincenzo Corbo, Maria Scardoni, Claudio Bassi, Margaret A. Tempero, Janet S. Graham

Publikováno v: Dreyer, S B, Upstill-goddard, R, Paulus-hock, V, Paris, C, Lampraki, E, Dray, E, Serrels, B, Caligiuri, G, Rebus, S, Plenker, D, Galluzzo, Z, Brunton, H, Cunningham, R, Tesson, M, Nourse, C, Bailey, U, Jones, M, Moran-jones, K, Wright, D W, Duthie, F, Oien, K, Evers, L, Mckay, C J, Mcgregor, G A, Gulati, A, Brough, R, Bajrami, I, Pettitt, S, Dziubinski, M L, Candido, J, Balkwill, F, Barry, S T, Grützmann, R, Rahib, L, Johns, A, Pajic, M, Froeling, F E M, Beer, P, Musgrove, E A, Petersen, G M, Ashworth, A, Frame, M C, Crawford, H C, Simeone, D M, Lord, C, Mukhopadhyay, D, Pilarsky, C, Tuveson, D A, Cooke, S L, Jamieson, N B, Morton, J P, Sansom, O J, Bailey, P J, Biankin, A V, Chang, D K, Allison, S, Bailey, P J, Bailey, U, Biankin, A V, Beraldi, D, Brunton, H, Caligiuri, G, Cameron, E, Chang, D K, Cooke, S L, Cunningham, R, Dreyer, S, Grimwood, P, Kelly, S, Lampraki, E, Marshall, J, Martin, S, Mcdade, B, Mcelroy, D, Musgrove, E A, Nourse, C, Paulus-hock, V, Ramsay, D, Upstill-goddard, R, Wright, D W, Jones, M D, Evers, L, Rebus, S, Rahib, L, Serrels, B, Hair, J, Jamieson, N B, Mckay, C J, Westwood, P, Williams, N, Duthie, F, Biankin, A V, Johns, A L, Mawson, A, Chang, D K, Scarlett, C J, Brancato, M L, Rowe, S J, Simpson, S H, Martyn-smith, M, Thomas, M T, Chantrill, L A, Chin, V T, Chou, A, Cowley, M J, Humphris, J L, Jones, M D, Mead, R S, Nagrial, A M, Pajic, M, Pettit, J, Pinese, M, Rooman, I, Wu, J, Tao, J, Dipietro, R, Watson, C, Steinmann, A, Lee, H C, Wong, R, Pinho, A V, Giry-laterriere, M, Daly, R J, Musgrove, E A, Sutherland, R L, Grimmond, S M, Waddell, N, Kassahn, K S, Miller, D K, Wilson, P J, Patch, A, Song, S, Harliwong, I, Idrisoglu, S, Nourse, C, Nourbakhsh, E, Manning, S, Wani, S, Gongora, M, Anderson, M, Holmes, O, Leonard, C, Taylor, D, Wood, S, Xu, C, Nones, K, Fink, J L, Christ, A, Bruxner, T, Cloonan, N, Newell, F, Pearson, J V, Bailey, P, Quinn, M, Nagaraj, S, Kazakoff, S, Waddell, N, Krisnan, K, Quek, K, Wood, D, Samra, J S, Gill, A J, Pavlakis, N, Guminski, A, Toon, C, Asghari, R, Merrett, N D, Pavey, D, Das, A, Cosman, P H, Ismail, K, O’connnor, C, Lam, V W, Mcleod, D, Pleass, H C, Richardson, A, James, V, Kench, J G, Cooper, C L, Joseph, D, Sandroussi, C, Crawford, M, Gallagher, J, Texler, M, Forest, C, Laycock, A, Epari, K P, Ballal, M, Fletcher, D R, Mukhedkar, S, Spry, N A, Deboer, B, Chai, M, Zeps, N, Beilin, M, Feeney, K, Nguyen, N Q, Ruszkiewicz, A R, Worthley, C, Tan, C P, Debrencini, T, Chen, J, Brooke-smith, M E, Papangelis, V, Tang, H, Barbour, A P, Clouston, A D, Martin, P, O’rourke, T J, Chiang, A, Fawcett, J W, Slater, K, Yeung, S, Hatzifotis, M, Hodgkinson, P, Christophi, C, Nikfarjam, M, Mountain, A, Biobank, V C, Eshleman, J R, Hruban, R H, Maitra, A, Iacobuzio-donahue, C A, Schulick, R D, Wolfgang, C L, Morgan, R A, Hodgin, M, Scarpa, A, Lawlor, R T, Beghelli, S, Corbo, V, Scardoni, M, Bassi, C, Tempero, M A, Biankin, A V, Grimmond, S M, Chang, D K, Musgrove, E A, Jones, M D, Nourse, C, Jamieson, N B, Graham, J S, Biankin, A V, Chang, D K, Jamieson, N B & Graham, J S 2020, ' Targeting DNA Damage Response and Replication Stress in Pancreatic Cancer ', Gastroenterology, vol. 160, no. 1, pp. 362-377.e13 . https://doi.org/10.1053/j.gastro.2020.09.043
Gastroenterology

Background & Aims Continuing recalcitrance to therapy cements pancreatic cancer (PC) as the most lethal malignancy, which is set to become the second leading cause of cancer death in our society. The study aim was to investigate the association betwe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73a3f9673fbfb1bdd5184962a42fdfee
http://hdl.handle.net/11562/1045585

Somatic point mutation calling in low cellularity tumors.

Autor: Karin S Kassahn, Oliver Holmes, Katia Nones, Ann-Marie Patch, David K Miller, Angelika N Christ, Ivon Harliwong, Timothy J Bruxner, Qinying Xu, Matthew Anderson, Scott Wood, Conrad Leonard, Darrin Taylor, Felicity Newell, Sarah Song, Senel Idrisoglu, Craig Nourse, Ehsan Nourbakhsh, Suzanne Manning, Shivangi Wani, Anita Steptoe, Marina Pajic, Mark J Cowley, Mark Pinese, David K Chang, Anthony J Gill, Amber L Johns, Jianmin Wu, Peter J Wilson, Lynn Fink, Andrew V Biankin, Nicola Waddell, Sean M Grimmond, John V Pearson

Publikováno v: PLoS ONE, Vol 8, Iss 11, p e74380 (2013)

Somatic mutation calling from next-generation sequencing data remains a challenge due to the difficulties of distinguishing true somatic events from artifacts arising from PCR, sequencing errors or mis-mapping. Tumor cellularity or purity, sub-clonal

Externí odkaz: https://doaj.org/article/1f8d37a30e0a43d595d93fe86ee5e4db