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

Autor: Bournazos, Adam M., Riley, Lisa G., Bommireddipalli, Shobhana, Ades, Lesley, Akesson, Lauren S., Al-Shinnag, Mohammad, Alexander, Stephen I., Archibald, Alison D., Balasubramaniam, Shanti, Berman, Yemima, Beshay, Victoria, Boggs, Kirsten, Bojadzieva, Jasmina, Brown, Natasha J., Bryen, Samantha J., Buckley, Michael F., Chong, Belinda, Davis, Mark R., Dawes, Ruebena, Delatycki, Martin, Donaldson, Liz, Downie, Lilian, Edwards, Caitlin, Edwards, Matthew, Engel, Amanda, Ewans, Lisa J., Faiz, Fathimath, Fennell, Andrew, Field, Michael, Freckmann, Mary-Louise, Gallacher, Lyndon, Gear, Russell, Goel, Himanshu, Goh, Shuxiang, Goodwin, Linda, Hanna, Bernadette, Harraway, James, Higgins, Megan, Ho, Gladys, Hopper, Bruce K., Horton, Ari E., Hunter, Matthew F., Huq, Aamira J., Josephi-Taylor, Sarah, Joshi, Himanshu, Kirk, Edwin, Krzesinski, Emma, Kumar, Kishore R., Lemckert, Frances, Leventer, Richard J., Lindsey-Temple, Suzanna E., Lunke, Sebastian, Ma, Alan, Macaskill, Steven, Mallawaarachchi, Amali, Marty, Melanie, Marum, Justine E., McCarthy, Hugh J., Menezes, Manoj P., McLean, Alison, Milnes, Di, Mohammad, Shekeeb, Mowat, David, Niaz, Aram, Palmer, Elizabeth E., Patel, Chirag, Patel, Shilpan G., Phelan, Dean, Pinner, Jason R., Rajagopalan, Sulekha, Regan, Matthew, Rodgers, Jonathan, Rodrigues, Miriam, Roxburgh, Richard H., Sachdev, Rani, Roscioli, Tony, Samarasekera, Ruvishani, Sandaradura, Sarah A., Savva, Elena, Schindler, Tim, Shah, Margit, Sinnerbrink, Ingrid B., Smith, Janine M., Smith, Richard J., Springer, Amanda, Stark, Zornitza, Strom, Samuel P., Sue, Carolyn M., Tan, Kenneth, Tan, Tiong Y., Tantsis, Esther, Tchan, Michel C., Thompson, Bryony A., Trainer, Alison H., van Spaendonck-Zwarts, Karin, Walsh, Rebecca, Warwick, Linda, White, Stephanie, White, Susan M., Williams, Mark G., Wilson, Meredith J., Wong, Wui Kwan, Wright, Dale C., Yap, Patrick, Yeung, Alison, Young, Helen, Jones, Kristi J., Bennetts, Bruce, Cooper, Sandra T., 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
Zdroj: Genetics in Medicine; January 2022, Vol. 24 Issue: 1 p130-145, 16p
Abstrakt: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (PCR)-based RNA diagnostics using clinically accessible specimens (blood, fibroblasts, urothelia, biopsy).
Databáze: Supplemental Index