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

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

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DOI
10.1016/j.gimo.2024.101842
Published
2024
Container
Genetics in Medicine Open
Publisher
Elsevier BV
Open access
unknown

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BibTeX

@article{allodium:10.1016/j.gimo.2024.101842,
  title = {A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship},
  author = {Rachel Austin and Jaye S. Brown and Sarah Casauria and Evanthia O. Madelli and Tessa Mattiske and Tiffany Boughtwood and Alejandro Metke and Andrew Davis and Ari E. Horton and David Winlaw and Debjani Das and Magdalena Soka and Eleni Giannoulatou and Emma M. Rath and Eric Haan and Gillian M. Blue and Jitendra Vohra and John J. Atherton and Karin van Spaendonck-Zwarts and Kathy Cox and Leslie Burnett and Mathew Wallis and Matilda Haas and Michael C.J. Quinn and Nicholas Pachter and Nicola K. Poplawski and Zornitza Stark and Richard D. Bagnall and Robert G. Weintraub and Sarah-Jane Pantaleo and Sebastian Lunke and Paul De Fazio and Tina Thompson and Paul James and Yuchen Chang and Diane Fatkin and Ivan Macciocca and Jodie Ingles and Sally L. Dunwoodie and Chris Semsarian and Julie McGaughran and Lesley Ades and Annabel Enriquez and Alison McLean and Renee Smyth and Dimithu Alankarage and Diane Fatkin and James McNamara and Magdalena Soka and Morgan almog and Vanessa Fear and Caroline Medi and Zornitza Stark and Mohammad Al-Shinnag and Miriam Fine and Alejandro Metke and Raymond Sy and John J. Atherton and Keri Finlay and Di Milnes and Dotti Tang and Rachel Austin and Denisse Garza and Michael Milward and Jessica Taylor and Richard D. Bagnall and Eleni Giannoulatou and Ansley Morrish and Shelby Taylor and Chris Barnett and Laura Gongolidis and Jim Morwood and Michel Tchan and Gillian M. Blue and Belinda Gray and Helen Mountain and Tina Thompson and Simon Bodek and Cassie Greer and David Mowat and Jordan Thorpe and Kirsten Boggs and Eric Haan and Chai-Ann Ng and Alison Trainer and Michael Bogwitz and Mathilda Haas and Natalie Nowak and Gunjan Trivedi and Tiffany Boughtwood and Bernadette Hanna and Noelia Nunez Martinez and Giulia Valente and Alessandra Bray and Richard Harvey and Monique Ohanian and Karin van Spaendonck-Zwarts and Marie-Jo Brion and Janette Hayward and Sinead O’Sullivan and Jamie Vandenberg and Jaye Brown and Carmen Herrera and Angela Overkov and Kunal Verma and Rob Bryson Richardson and Adam Hill and Nicholas Pachter and Miranda Vidgen and Leslie Burnett and Georgie Hollingsworth and Chirag Patel and Jitendra Vohra and Charlotte Burns and Georgina Hollway and Mark Perrin and Kathryn Waddel-Smith and Michelle Cao and Ari E. Horton and Matthew Perry and Mathew Wallis and Will Carr and Denise Howting and Andreas Pflaumer and Robert G. Weintraub and Sarah Casauria and Jodie Ingles and Peta Phillips and Meredith Wilson and Heather Chalinor and Joanne Isbister and Thuan Phuong and David Winlaw and Yuchen Chang and Matilda Jackson and Rachel Pope-Couston and Lisa Worgan and Gavin Chapman and Paul James and Nicola K. Poplawski and Linda Wornham and Theosodia Charitou and Sarah Jane-Pantaleo and Preeti Punni and Kathy Wu and Belinda Chong and Renee Johnson and Michael C.J. Quinn and Laura Yeates and Felicity Collins and Andrew Kelly and Michael Quinn and Dominica Zentner and Gemma Correnti and Sarah King-Smith and Sulekha Rajagopalan and Kathy Cox and Edwin Kirk and Hariharan Raju and Fiona Cunningham and Sarah Kummerfeld and Emma M. Rath and Debjani Das and Timo Lassman and Matthew Regan and Jason Davis and Jonathon Lipton and Jonathan Rogers and Andrew Davis and Sebastian Lunke and Mark Ryan and Paul De Fazio and Ivan Macciocca and Sarah Sandaradura and Michelle de Silva and Paul MacIntyre and Nicole Schonrock and Nicola Den Elzen and Evanthia O. Madelli and Paul Scuffham and Sophie Devery and Amali Mallawaarachchi and Chris Semsarian and Julia Dobbins and Julia Mansour and Isabella Sherburn and Sally L. Dunwoodie and Ellenore Martin and Mary-Clare Sherlock and Nathan Dwyer and Jacob Mathew and Emma Singer and Stefanie Elbracht-Leong and Tessa Mattiske and Carla Smerdon and David Elliott and Julie McGaughran and Janine Smith},
  year = {2024},
  journal = {Genetics in Medicine Open},
  doi = {10.1016/j.gimo.2024.101842},
  url = {https://doi.org/10.1016/j.gimo.2024.101842}
}

RIS

TY  - JOUR
TI  - A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship
AU  - Rachel Austin
AU  - Jaye S. Brown
AU  - Sarah Casauria
AU  - Evanthia O. Madelli
AU  - Tessa Mattiske
AU  - Tiffany Boughtwood
AU  - Alejandro Metke
AU  - Andrew Davis
AU  - Ari E. Horton
AU  - David Winlaw
AU  - Debjani Das
AU  - Magdalena Soka
AU  - Eleni Giannoulatou
AU  - Emma M. Rath
AU  - Eric Haan
AU  - Gillian M. Blue
AU  - Jitendra Vohra
AU  - John J. Atherton
AU  - Karin van Spaendonck-Zwarts
AU  - Kathy Cox
AU  - Leslie Burnett
AU  - Mathew Wallis
AU  - Matilda Haas
AU  - Michael C.J. Quinn
AU  - Nicholas Pachter
AU  - Nicola K. Poplawski
AU  - Zornitza Stark
AU  - Richard D. Bagnall
AU  - Robert G. Weintraub
AU  - Sarah-Jane Pantaleo
AU  - Sebastian Lunke
AU  - Paul De Fazio
AU  - Tina Thompson
AU  - Paul James
AU  - Yuchen Chang
AU  - Diane Fatkin
AU  - Ivan Macciocca
AU  - Jodie Ingles
AU  - Sally L. Dunwoodie
AU  - Chris Semsarian
AU  - Julie McGaughran
AU  - Lesley Ades
AU  - Annabel Enriquez
AU  - Alison McLean
AU  - Renee Smyth
AU  - Dimithu Alankarage
AU  - Diane Fatkin
AU  - James McNamara
AU  - Magdalena Soka
AU  - Morgan almog
AU  - Vanessa Fear
AU  - Caroline Medi
AU  - Zornitza Stark
AU  - Mohammad Al-Shinnag
AU  - Miriam Fine
AU  - Alejandro Metke
AU  - Raymond Sy
AU  - John J. Atherton
AU  - Keri Finlay
AU  - Di Milnes
AU  - Dotti Tang
AU  - Rachel Austin
AU  - Denisse Garza
AU  - Michael Milward
AU  - Jessica Taylor
AU  - Richard D. Bagnall
AU  - Eleni Giannoulatou
AU  - Ansley Morrish
AU  - Shelby Taylor
AU  - Chris Barnett
AU  - Laura Gongolidis
AU  - Jim Morwood
AU  - Michel Tchan
AU  - Gillian M. Blue
AU  - Belinda Gray
AU  - Helen Mountain
AU  - Tina Thompson
AU  - Simon Bodek
AU  - Cassie Greer
AU  - David Mowat
AU  - Jordan Thorpe
AU  - Kirsten Boggs
AU  - Eric Haan
AU  - Chai-Ann Ng
AU  - Alison Trainer
AU  - Michael Bogwitz
AU  - Mathilda Haas
AU  - Natalie Nowak
AU  - Gunjan Trivedi
AU  - Tiffany Boughtwood
AU  - Bernadette Hanna
AU  - Noelia Nunez Martinez
AU  - Giulia Valente
AU  - Alessandra Bray
AU  - Richard Harvey
AU  - Monique Ohanian
AU  - Karin van Spaendonck-Zwarts
AU  - Marie-Jo Brion
AU  - Janette Hayward
AU  - Sinead O’Sullivan
AU  - Jamie Vandenberg
AU  - Jaye Brown
AU  - Carmen Herrera
AU  - Angela Overkov
AU  - Kunal Verma
AU  - Rob Bryson Richardson
AU  - Adam Hill
AU  - Nicholas Pachter
AU  - Miranda Vidgen
AU  - Leslie Burnett
AU  - Georgie Hollingsworth
AU  - Chirag Patel
AU  - Jitendra Vohra
AU  - Charlotte Burns
AU  - Georgina Hollway
AU  - Mark Perrin
AU  - Kathryn Waddel-Smith
AU  - Michelle Cao
AU  - Ari E. Horton
AU  - Matthew Perry
AU  - Mathew Wallis
AU  - Will Carr
AU  - Denise Howting
AU  - Andreas Pflaumer
AU  - Robert G. Weintraub
AU  - Sarah Casauria
AU  - Jodie Ingles
AU  - Peta Phillips
AU  - Meredith Wilson
AU  - Heather Chalinor
AU  - Joanne Isbister
AU  - Thuan Phuong
AU  - David Winlaw
AU  - Yuchen Chang
AU  - Matilda Jackson
AU  - Rachel Pope-Couston
AU  - Lisa Worgan
AU  - Gavin Chapman
AU  - Paul James
AU  - Nicola K. Poplawski
AU  - Linda Wornham
AU  - Theosodia Charitou
AU  - Sarah Jane-Pantaleo
AU  - Preeti Punni
AU  - Kathy Wu
AU  - Belinda Chong
AU  - Renee Johnson
AU  - Michael C.J. Quinn
AU  - Laura Yeates
AU  - Felicity Collins
AU  - Andrew Kelly
AU  - Michael Quinn
AU  - Dominica Zentner
AU  - Gemma Correnti
AU  - Sarah King-Smith
AU  - Sulekha Rajagopalan
AU  - Kathy Cox
AU  - Edwin Kirk
AU  - Hariharan Raju
AU  - Fiona Cunningham
AU  - Sarah Kummerfeld
AU  - Emma M. Rath
AU  - Debjani Das
AU  - Timo Lassman
AU  - Matthew Regan
AU  - Jason Davis
AU  - Jonathon Lipton
AU  - Jonathan Rogers
AU  - Andrew Davis
AU  - Sebastian Lunke
AU  - Mark Ryan
AU  - Paul De Fazio
AU  - Ivan Macciocca
AU  - Sarah Sandaradura
AU  - Michelle de Silva
AU  - Paul MacIntyre
AU  - Nicole Schonrock
AU  - Nicola Den Elzen
AU  - Evanthia O. Madelli
AU  - Paul Scuffham
AU  - Sophie Devery
AU  - Amali Mallawaarachchi
AU  - Chris Semsarian
AU  - Julia Dobbins
AU  - Julia Mansour
AU  - Isabella Sherburn
AU  - Sally L. Dunwoodie
AU  - Ellenore Martin
AU  - Mary-Clare Sherlock
AU  - Nathan Dwyer
AU  - Jacob Mathew
AU  - Emma Singer
AU  - Stefanie Elbracht-Leong
AU  - Tessa Mattiske
AU  - Carla Smerdon
AU  - David Elliott
AU  - Julie McGaughran
AU  - Janine Smith
PY  - 2024
JO  - Genetics in Medicine Open
DO  - 10.1016/j.gimo.2024.101842
UR  - https://doi.org/10.1016/j.gimo.2024.101842
ER  - 

APA

Austin, R., Brown, J. S., Casauria, S., Madelli, E. O., Mattiske, T., Boughtwood, T., Metke, A., Davis, A., Horton, A. E., Winlaw, D., Das, D., Soka, M., Giannoulatou, E., Rath, E. M., Haan, E., Blue, G. M., Vohra, J., Atherton, J. J., Spaendonck-Zwarts, K. V., Cox, K., Burnett, L., Wallis, M., Haas, M., Quinn, M. C., Pachter, N., Poplawski, N. K., Stark, Z., Bagnall, R. D., Weintraub, R. G., Pantaleo, S., Lunke, S., Fazio, P. D., Thompson, T., James, P., Chang, Y., Fatkin, D., Macciocca, I., Ingles, J., Dunwoodie, S. L., Semsarian, C., McGaughran, J., Ades, L., Enriquez, A., McLean, A., Smyth, R., Alankarage, D., Fatkin, D., McNamara, J., Soka, M., almog, M., Fear, V., Medi, C., Stark, Z., Al-Shinnag, M., Fine, M., Metke, A., Sy, R., Atherton, J. J., Finlay, K., Milnes, D., Tang, D., Austin, R., Garza, D., Milward, M., Taylor, J., Bagnall, R. D., Giannoulatou, E., Morrish, A., Taylor, S., Barnett, C., Gongolidis, L., Morwood, J., Tchan, M., Blue, G. M., Gray, B., Mountain, H., Thompson, T., Bodek, S., Greer, C., Mowat, D., Thorpe, J., Boggs, K., Haan, E., Ng, C., Trainer, A., Bogwitz, M., Haas, M., Nowak, N., Trivedi, G., Boughtwood, T., Hanna, B., Martinez, N. N., Valente, G., Bray, A., Harvey, R., Ohanian, M., Spaendonck-Zwarts, K. V., Brion, M., Hayward, J., O’Sullivan, S., Vandenberg, J., Brown, J., Herrera, C., Overkov, A., Verma, K., Richardson, R. B., Hill, A., Pachter, N., Vidgen, M., Burnett, L., Hollingsworth, G., Patel, C., Vohra, J., Burns, C., Hollway, G., Perrin, M., Waddel-Smith, K., Cao, M., Horton, A. E., Perry, M., Wallis, M., Carr, W., Howting, D., Pflaumer, A., Weintraub, R. G., Casauria, S., Ingles, J., Phillips, P., Wilson, M., Chalinor, H., Isbister, J., Phuong, T., Winlaw, D., Chang, Y., Jackson, M., Pope-Couston, R., Worgan, L., Chapman, G., James, P., Poplawski, N. K., Wornham, L., Charitou, T., Jane-Pantaleo, S., Punni, P., Wu, K., Chong, B., Johnson, R., Quinn, M. C., Yeates, L., Collins, F., Kelly, A., Quinn, M., Zentner, D., Correnti, G., King-Smith, S., Rajagopalan, S., Cox, K., Kirk, E., Raju, H., Cunningham, F., Kummerfeld, S., Rath, E. M., Das, D., Lassman, T., Regan, M., Davis, J., Lipton, J., Rogers, J., Davis, A., Lunke, S., Ryan, M., Fazio, P. D., Macciocca, I., Sandaradura, S., Silva, M. D., MacIntyre, P., Schonrock, N., Elzen, N. D., Madelli, E. O., Scuffham, P., Devery, S., Mallawaarachchi, A., Semsarian, C., Dobbins, J., Mansour, J., Sherburn, I., Dunwoodie, S. L., Martin, E., Sherlock, M., Dwyer, N., Mathew, J., Singer, E., Elbracht-Leong, S., Mattiske, T., Smerdon, C., Elliott, D., McGaughran, J., & Smith, J. (2024). A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship. Genetics in Medicine Open. https://doi.org/10.1016/j.gimo.2024.101842

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