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23 results on '"Lundie, Ben"'

1. Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023

Author

Mallawaarachchi, Amali, Biros, Erik, Harris, Trudie, Bennetts, Bruce, Boughtwood, Tiffany, Elliott, Justine, Fowles, Lindsay, Gardos, Robert, Garza, Denisse, Goranitis, Ilias, Haas, Matilda, Huntley, Vanessa, Jefferis, Julia, Kassahn, Karin, Leaver, Anna, Lundie, Ben, Lunke, Sebastian, O’Connor, Caitlin, Pratt, Greg, Quinlan, Catherine, Shearman, Dianne, Soraru, Jacqueline, Sundaram, Madhivanan, Tchan, Michel, Valente, Giulia, White, Julie, Wilkins, Ella, Alexander, Steve I., Amir, Noa, Best, Stephanie, Gul, Hossai, Jayasinghe, Kushani, McCarthy, Hugh, Patel, Chirag, Stark, Zornitza, and Mallett, Andrew J.

Published
2024
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2. Genetic counseling workforce diversity, inclusion, and capacity in Australia and New Zealand

Author

Nisselle, Amy, Pearn, Amy, Kanga-Parabia, Anaita, Lundie, Ben, Wong, Claire, Health, N.S.W., Gaff, Clara, Genomics, Australian, Mountain, Helen, Duggal, Jaitika, Pinner, Jason, Hunt, Lauren, Gallacher, Lyndon, Williams, Rachel, Lunke, Sebastian, Burman, Yemima, Blackwell, Alex, Rakonjac, Ana, Courtney, Eliza, Edwards, Emma, Harrison, Emma, Hayward, Janette, Mitchell, Lucas, Bowman, Michelle, Cao, Michelle, Belekar, Mithila, Smyth, Renee, Hogan, Saraya, and Kapoor, Trisha

Published
2024
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3. Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Author

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

Published
2022
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4. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Author

Abdulrasool, Ghusoon, Akesson, Lauren S., Al Eryani, Ghamdan, Al-Shinnag, Mohammad, Arts, Peer, Bagnall, Richard, Baker, Naomi L., Barnett, Christopher, Beecroft, Sarah, Bennetts, Bruce, Berbic, Marina, Beshay, Victoria, Black, Michael, Blackburn, Jim, Blombery, Piers, Boggs, Kirsten, Bournazos, Adam M., Branford, Susan, Breen, Jimmy, Brown, Natasha J., Bryen, Samantha J., Burnett, Leslie, Canson, Daffodil, Cheong, Pak, Chew, Edward, Chong, Belinda, Christodoulou, John, Chung, Seo-Kyung, Clark, Mike, Cliffe, Corrina, Cole, Melissa, Collins, Felicity, Compton, Alison, Cooper, Antony, Cooper, Sandra T., Corbett, Mark, Cowley, Mark, Davis, Mark R., Delatycki, Martin, Dudding, Tracy, Edwards, Matthew, Eggers, Stefanie, Ewans, Lisa J., Eyras, Eduardo, Faiz, Fathimath, Fernandez, Miriam Fanjul, Fellowes, Andrew, Fennell, Andrew, Field, Michael, Fleischer, Ron, Folland, Chiara, Fox, Lucy, Freckmann, Mary-Louise, Gaff, Clara, Galea, Melanie, Ghaoui, Roula, Goel, Himanshu, Gornanitis, Ilias, Ha, Thuong, Hanna, Bernadette, Harraway, James, Hayashi, Rippei, Hayes, Ian, Henderson, Alex, Hesson, Luke, Heyer, Erin, Hildebrand, Michael, Hipwell, Michael, Ho, Gladys, Horton, Ari E., Hoskins, Cass, Hunter, Matthew F., Jackson, Matilda, James, Paul, Jones, Kristi J., Wong, Justin Jong-Leong, Josephi-Taylor, Sarah, Joshi, Himanshu, Kassahn, Karin, Kaub, Peter, Kevin, Lucy, Kirk, Edwin, Krzesinski, Emma, Kumble, Smitha, Kummerfeld, Sarah, Laing, Nigel, Lau, Chiyan, Lee, Eric, Leighton, Sarah, Lundie, Ben, Lunke, Sebastian, Mallawaarachchi, Amali, Mayoh, Chelsea, McGaughran, Julie, McLean, Alison, McPhillips, Mary, Meldrum, Cliff, Middleton, Edwina, Milnes, Di, Mina, Kym, Mowat, David, Nisselle, Amy, Oates, Emily, Oshlack, Alicia, Palmer, Elizabeth E., Parasivam, Gayathri, Parsons, Michael, Patel, Chirag, Pinner, Jason R., Quinn, Michael, Rasko, John, Ravenscroft, Gina, Ravine, Anja, Recsei, Krista, Regan, Matthew, Rehn, Jacqueline, Riley, Lisa G., Robertson, Stephen, Ronan, Anne, Roscioli, Tony, Ryland, Georgina, Sadedin, Simon, Sandaradura, Sarah A., Schreiber, Andreas, Scott, Hamish, Scott, Rodney, Semsarian, Christopher, Simons, Cas, Singer, Emma, Smith, Janine M., Smyth, Renee, Spurdle, Amanda, Stark, Zornitza, Sullivan, Patricia, Sundercombe, Samantha, Tan, Tiong Y., Tchan, Michel C., Thompson, Bryony A., Thorburn, David, Toubia, John, Trent, Ronald, Tudini, Emma, Voneague, Irina, Waddell, Leigh, Walker, Logan, Wallis, Mathew, Warnock, Nick, Weatheritt, Robert, White, Deborah, White, Susan M., Williams, Mark G., Wilson, Meredith J., Winship, Ingrid, Worgan, Lisa, Wright, Dale C., Wu, Kathy, Yeung, Alison, Ziolowski, Andrew, Bommireddipalli, Shobhana, Ades, Lesley, Alexander, Stephen I., Archibald, Alison D., Balasubramaniam, Shanti, Berman, Yemima, Bojadzieva, Jasmina, Buckley, Michael F., Dawes, Ruebena, Donaldson, Liz, Downie, Lilian, Edwards, Caitlin, Engel, Amanda, Gallacher, Lyndon, Gear, Russell, Goh, Shuxiang, Goodwin, Linda, Higgins, Megan, Hopper, Bruce K., Huq, Aamira J., Kumar, Kishore R., Lemckert, Frances, Leventer, Richard J., Lindsey-Temple, Suzanna E., Ma, Alan, Macaskill, Steven, Marty, Melanie, Marum, Justine E., McCarthy, Hugh J., Menezes, Manoj P., Mohammad, Shekeeb, Niaz, Aram, Patel, Shilpan G., Phelan, Dean, Rajagopalan, Sulekha, Rodgers, Jonathan, Rodrigues, Miriam, Roxburgh, Richard H., Sachdev, Rani, Samarasekera, Ruvishani, Savva, Elena, Schindler, Tim, Shah, Margit, Sinnerbrink, Ingrid B., Smith, Richard J., Springer, Amanda, Strom, Samuel P., Sue, Carolyn M., Tan, Kenneth, Tantsis, Esther, Trainer, Alison H., van Spaendonck-Zwarts, Karin, Walsh, Rebecca, Warwick, Linda, White, Stephanie, Wong, Wui Kwan, Yap, Patrick, and Young, Helen

Published
2022
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5. Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing

Author

Mallawaarachchi, Amali C., Lundie, Ben, Hort, Yvonne, Schonrock, Nicole, Senum, Sarah R., Gayevskiy, Velimir, Minoche, Andre E., Hollway, Georgina, Ohnesorg, Thomas, Hinchcliffe, Marcus, Patel, Chirag, Tchan, Michel, Mallett, Andrew, Dinger, Marcel E., Rangan, Gopala, Cowley, Mark J., Harris, Peter C., Burnett, Leslie, Shine, John, and Furlong, Timothy J.

Published
2021
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9. The Q-IMPROvE (Queensland-IMplementation of PRecision Oncology in brEast cancer) pilot study

Author

McCart Reed, Amy E, primary, McCurry, Therese, additional, Hollway, Georgina, additional, Al-Saig, Haidar, additional, Andelkovic, Vladimir, additional, Cuff, Katharine, additional, Cummings, Margaret, additional, Fairbairn, David, additional, Inglis, Po-ling, additional, Jagger, Gillian, additional, Johanson, Helene, additional, Kalinowski, Lauren, additional, Kondrashova, Olga, additional, Koufariotis, Lambros T., additional, Kuchel, Anna, additional, Ladwa, Rahul, additional, Lau, Chiyan, additional, Lundie, Ben, additional, Fan, Helen Mar, additional, McCarthy, Nicole, additional, Middleton, Kathryn, additional, Murugappan, Kowsalya, additional, Nalder, Mark, additional, Niland, Colleen, additional, Nottage, Michelle K, additional, O’Byrne, Kenneth J, additional, Pearson, John V, additional, Roberts, Kate, additional, Hormaechea, Gorane Santamaria, additional, Snell, Cameron, additional, Steinke, Karin, additional, Suder, Aneta, additional, Tam, Diana, additional, Walpole, Euan, additional, Woodward, Natasha, additional, Wong, Clement, additional, Wong, Ho Yi, additional, Xu, Wen, additional, Simpson, Peter T, additional, Waddell, Nicola, additional, and Lakhani, Sunil R, additional

Published
2023
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10. Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Author

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

Published
2022
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11. Response to Brodehl et al.

Author

Minoche, Andre E., Horvat, Claire, Johnson, Renee, Gayevskiy, Velimir, Morton, Sarah U., Drew, Alexander P., Woo, Kerhan, Statham, Aaron L., Lundie, Ben, Bagnall, Richard D., Ingles, Jodie, Semsarian, Christopher, Seidman, J. G., Seidman, Christine E., Dinger, Marcel E., Cowley, Mark J., and Fatkin, Diane

Published
2019
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13. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Author

Bournazos, Adam M., primary, Riley, Lisa G., additional, Bommireddipalli, Shobhana, additional, Ades, Lesley, additional, Akesson, Lauren S., additional, Al-Shinnag, Mohammad, additional, Alexander, Stephen I., additional, Archibald, Alison D., additional, Balasubramaniam, Shanti, additional, Berman, Yemima, additional, Beshay, Victoria, additional, Boggs, Kirsten, additional, Bojadzieva, Jasmina, additional, Brown, Natasha J., additional, Bryen, Samantha J., additional, Buckley, Michael F., additional, Chong, Belinda, additional, Davis, Mark R., additional, Dawes, Ruebena, additional, Delatycki, Martin, additional, Donaldson, Liz, additional, Downie, Lilian, additional, Edwards, Caitlin, additional, Edwards, Matthew, additional, Engel, Amanda, additional, Ewans, Lisa J., additional, Faiz, Fathimath, additional, Fennell, Andrew, additional, Field, Michael, additional, Freckmann, Mary-Louise, additional, Gallacher, Lyndon, additional, Gear, Russell, additional, Goel, Himanshu, additional, Goh, Shuxiang, additional, Goodwin, Linda, additional, Hanna, Bernadette, additional, Harraway, James, additional, Higgins, Megan, additional, Ho, Gladys, additional, Hopper, Bruce K., additional, Horton, Ari E., additional, Hunter, Matthew F., additional, Huq, Aamira J., additional, Josephi-Taylor, Sarah, additional, Joshi, Himanshu, additional, Kirk, Edwin, additional, Krzesinski, Emma, additional, Kumar, Kishore R., additional, Lemckert, Frances, additional, Leventer, Richard J., additional, Lindsey-Temple, Suzanna E., additional, Lunke, Sebastian, additional, Ma, Alan, additional, Macaskill, Steven, additional, Mallawaarachchi, Amali, additional, Marty, Melanie, additional, Marum, Justine E., additional, McCarthy, Hugh J., additional, Menezes, Manoj P., additional, McLean, Alison, additional, Milnes, Di, additional, Mohammad, Shekeeb, additional, Mowat, David, additional, Niaz, Aram, additional, Palmer, Elizabeth E., additional, Patel, Chirag, additional, Patel, Shilpan G., additional, Phelan, Dean, additional, Pinner, Jason R., additional, Rajagopalan, Sulekha, additional, Regan, Matthew, additional, Rodgers, Jonathan, additional, Rodrigues, Miriam, additional, Roxburgh, Richard H., additional, Sachdev, Rani, additional, Roscioli, Tony, additional, Samarasekera, Ruvishani, additional, Sandaradura, Sarah A., additional, Savva, Elena, additional, Schindler, Tim, additional, Shah, Margit, additional, Sinnerbrink, Ingrid B., additional, Smith, Janine M., additional, Smith, Richard J., additional, Springer, Amanda, additional, Stark, Zornitza, additional, Strom, Samuel P., additional, Sue, Carolyn M., additional, Tan, Kenneth, additional, Tan, Tiong Y., additional, Tantsis, Esther, additional, Tchan, Michel C., additional, Thompson, Bryony A., additional, Trainer, Alison H., additional, van Spaendonck-Zwarts, Karin, additional, Walsh, Rebecca, additional, Warwick, Linda, additional, White, Stephanie, additional, White, Susan M., additional, Williams, Mark G., additional, Wilson, Meredith J., additional, Wong, Wui Kwan, additional, Wright, Dale C., additional, Yap, Patrick, additional, Yeung, Alison, additional, Young, Helen, additional, Jones, Kristi J., additional, Bennetts, Bruce, additional, Cooper, Sandra T., additional, Abdulrasool, Ghusoon, additional, Al Eryani, Ghamdan, additional, Arts, Peer, additional, Bagnall, Richard, additional, Baker, Naomi L., additional, Barnett, Christopher, additional, Beecroft, Sarah, additional, Berbic, Marina, additional, Black, Michael, additional, Blackburn, Jim, additional, Blombery, Piers, additional, Bournazos, Adam M., additional, Branford, Susan, additional, Breen, Jimmy, additional, Burnett, Leslie, additional, Canson, Daffodil, additional, Cheong, Pak, additional, Chew, Edward, additional, Christodoulou, John, additional, Chung, Seo-Kyung, additional, Clark, Mike, additional, Cliffe, Corrina, additional, Cole, Melissa, additional, Collins, Felicity, additional, Compton, Alison, additional, Cooper, Antony, additional, Corbett, Mark, additional, Cowley, Mark, additional, Dudding, Tracy, additional, Eggers, Stefanie, additional, Eyras, Eduardo, additional, Fernandez, Miriam Fanjul, additional, Fellowes, Andrew, additional, Fleischer, Ron, additional, Folland, Chiara, additional, Fox, Lucy, additional, Gaff, Clara, additional, Galea, Melanie, additional, Ghaoui, Roula, additional, Gornanitis, Ilias, additional, Ha, Thuong, additional, Hayashi, Rippei, additional, Hayes, Ian, additional, Henderson, Alex, additional, Hesson, Luke, additional, Heyer, Erin, additional, Hildebrand, Michael, additional, Hipwell, Michael, additional, Hoskins, Cass, additional, Jackson, Matilda, additional, James, Paul, additional, Wong, Justin Jong-Leong, additional, Kassahn, Karin, additional, Kaub, Peter, additional, Kevin, Lucy, additional, Kumble, Smitha, additional, Kummerfeld, Sarah, additional, Laing, Nigel, additional, Lau, Chiyan, additional, Lee, Eric, additional, Leighton, Sarah, additional, Lundie, Ben, additional, Mayoh, Chelsea, additional, McGaughran, Julie, additional, McPhillips, Mary, additional, Meldrum, Cliff, additional, Middleton, Edwina, additional, Mina, Kym, additional, Nisselle, Amy, additional, Oates, Emily, additional, Oshlack, Alicia, additional, Parasivam, Gayathri, additional, Parsons, Michael, additional, Quinn, Michael, additional, Rasko, John, additional, Ravenscroft, Gina, additional, Ravine, Anja, additional, Recsei, Krista, additional, Rehn, Jacqueline, additional, Robertson, Stephen, additional, Ronan, Anne, additional, Ryland, Georgina, additional, Sadedin, Simon, additional, Schreiber, Andreas, additional, Scott, Hamish, additional, Scott, Rodney, additional, Semsarian, Christopher, additional, Simons, Cas, additional, Singer, Emma, additional, Smyth, Renee, additional, Spurdle, Amanda, additional, Sullivan, Patricia, additional, Sundercombe, Samantha, additional, Thorburn, David, additional, Toubia, John, additional, Trent, Ronald, additional, Tudini, Emma, additional, Voneague, Irina, additional, Waddell, Leigh, additional, Walker, Logan, additional, Wallis, Mathew, additional, Warnock, Nick, additional, Weatheritt, Robert, additional, White, Deborah, additional, Winship, Ingrid, additional, Worgan, Lisa, additional, Wu, Kathy, additional, and Ziolowski, Andrew, additional

Published
2022
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16. Additional file 1 of ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

Author

Minoche, Andre E., Lundie, Ben, Peters, Greg B., Ohnesorg, Thomas, Pinese, Mark, Thomas, David M., Zankl, Andreas, Roscioli, Tony, Schonrock, Nicole, Kummerfeld, Sarah, Burnett, Leslie, Dinger, Marcel E., and Cowley, Mark J.

Abstract

Additional file 1. Supplemental Tables and Figures. Collection of supplemental Tables and Figures.

Published
2021
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17. Additional file 3 of ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

Author

Minoche, Andre E., Lundie, Ben, Peters, Greg B., Ohnesorg, Thomas, Pinese, Mark, Thomas, David M., Zankl, Andreas, Roscioli, Tony, Schonrock, Nicole, Kummerfeld, Sarah, Burnett, Leslie, Dinger, Marcel E., and Cowley, Mark J.

Abstract

Additional file 3. Sample automated QC report NA12878. ClinSV’s automated QC report for control sample NA12878.

Published
2021
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18. Paediatric genomic testing: Navigating medicare rebatable genomic testing

Author

Sachdev, Rani, primary, Field, Mike, additional, Baynam, Gareth S, additional, Beilby, John, additional, Berarducci, Maria, additional, Berman, Yemima, additional, Boughtwood, Tiffany, additional, Cusack, Marie B, additional, Fitzgerald, Vanessa, additional, Fletcher, Jeffery, additional, Freckmann, Mary‐Louise, additional, Grainger, Natalie, additional, Kirk, Edwin, additional, Lundie, Ben, additional, Lunke, Sebastian, additional, McGregor, Lesley, additional, Mowat, David, additional, Parasivam, Gayathri, additional, Tyrell, Vanessa, additional, Wallis, Mathew, additional, White, Susan M, additional, and Ma, Alan, additional

Published
2021
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19. ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data

Author

Minoche, Andre E, primary, Lundie, Ben, additional, Peters, Greg B, additional, Ohnesorg, Thomas, additional, Pinese, Mark, additional, Thomas, David M, additional, Zankl, Andreas, additional, Roscioli, Tony, additional, Schonrock, Nicole, additional, Kummerfeld, Sarah, additional, Burnett, Leslie, additional, Dinger, Marcel E, additional, and Cowley, Mark J, additional

Published
2020
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20. Response to Brodehl et al.

Author

Minoche, Andre E., primary, Horvat, Claire, additional, Johnson, Renee, additional, Gayevskiy, Velimir, additional, Morton, Sarah U., additional, Drew, Alexander P., additional, Woo, Kerhan, additional, Statham, Aaron L., additional, Lundie, Ben, additional, Bagnall, Richard D., additional, Ingles, Jodie, additional, Semsarian, Christopher, additional, Seidman, J. G., additional, Seidman, Christine E., additional, Dinger, Marcel E., additional, Cowley, Mark J., additional, and Fatkin, Diane, additional

Published
2018
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23. Consultation informs strategies to improve functional evidence use in variant classification.

Author

Villani RM, Terrill B, Tudini E, McKenzie ME, Cliffe CC, Hahn CN, Lundie B, Mattiske T, Matotek E, McEwen AE, Nickerson SL, Breen J, Fowler DM, Christodoulou J, Starita L, Rubin AF, and Spurdle AB

Abstract

To determine if a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Experimental assay data can provide strong functional evidence for or against pathogenicity in variant classification, but appears to be underutilised. We surveyed genetic diagnostic professionals in Australasia to assess their application of functional evidence in clinical practice. Results indicated that survey respondents are not confident to apply functional evidence, mainly due to uncertainty around practice recommendations. Respondents also identified need for support resources, educational opportunities, and in particular requested expert recommendations and updated practice guidelines to improve translation of experimental data to curation evidence. As an initial step, we have collated a list of functional assays recommended by 19 ClinGen Variant Curation Expert Panels as a source of international expert opinion on functional evidence evaluation. Additional support resources for diagnostic practice are in development., Competing Interests: Competing Interests The authors declare no competing interests.

Published
2024
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