Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data

por Chen, Xiao, Shen, Fei, Gonzaludo, Nina, Malhotra, Alka, Rogert, Cande, Taft, Ryan J., Bentley, David R., Eberle, Michael A.
Publicado 2021

Publisher Correction: Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data

por Chen, Xiao, Shen, Fei, Gonzaludo, Nina, Malhotra, Alka, Rogert, Cande, Taft, Ryan J., Bentley, David R., Eberle, Michael A.
Publicado 2022

Paragraph: a graph-based structural variant genotyper for short-read sequence data

por Chen, Sai, Krusche, Peter, Dolzhenko, Egor, Sherman, Rachel M., Petrovski, Roman, Schlesinger, Felix, Kirsche, Melanie, Bentley, David R., Schatz, Michael C., Sedlazeck, Fritz J., Eberle, Michael A.
Publicado 2019

Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

por Clause, Amanda R., Taylor, Julie P., Rajkumar, Revathi, Bluske, Krista, Bennett, Maren, Amendola, Laura M., Bentley, David R., Taft, Ryan J., Perry, Denise L., Coffey, Alison J.
Publicado 2023

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

por Chen, Xiao, Sanchis-Juan, Alba, French, Courtney E., Connell, Andrew J., Delon, Isabelle, Kingsbury, Zoya, Chawla, Aditi, Halpern, Aaron L., Taft, Ryan J., Bentley, David R., Butchbach, Matthew E. R., Raymond, F. Lucy, Eberle, Michael A.
Publicado 2020

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

por Eberle, Michael A., Fritzilas, Epameinondas, Krusche, Peter, Källberg, Morten, Moore, Benjamin L., Bekritsky, Mitchell A., Iqbal, Zamin, Chuang, Han-Yu, Humphray, Sean J., Halpern, Aaron L., Kruglyak, Semyon, Margulies, Elliott H., McVean, Gil, Bentley, David R.
Publicado 2017

Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment

por Ceroni, Fabiola, Simpson, Nuala H, Francks, Clyde, Baird, Gillian, Conti-Ramsden, Gina, Clark, Ann, Bolton, Patrick F, Hennessy, Elizabeth R, Donnelly, Peter, Bentley, David R, Martin, Hilary, Parr, Jeremy, Pagnamenta, Alistair T, Maestrini, Elena, Bacchelli, Elena, Fisher, Simon E, Newbury, Dianne F
Publicado 2014

Reply to Pembrey et al: ‘ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'

por Ceroni, Fabiola, Simpson, Nuala H, Francks, Clyde, Baird, Gillian, Conti-Ramsden, Gina, Clark, Ann, Bolton, Patrick F, Hennessy, Elizabeth R, Donnelly, Peter, Bentley, David R, Martin, Hilary, Parr, Jeremy, Pagnamenta, Alistair T, Maestrini, Elena, Bacchelli, Elena, Fisher, Simon E, Newbury, Dianne F
Publicado 2015

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

por Scocchia, Alicia, Wigby, Kristen M., Masser-Frye, Diane, Del Campo, Miguel, Galarreta, Carolina I., Thorpe, Erin, McEachern, Julia, Robinson, Keisha, Gross, Andrew, Ajay, Subramanian S., Rajan, Vani, Perry, Denise L., Belmont, John W., Bentley, David R., Jones, Marilyn C., Taft, Ryan J.
Publicado 2019

Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial

por Schwab, Claire, Cranston, Ruth E., Ryan, Sarra L., Butler, Ellie, Winterman, Emily, Hawking, Zoe, Bashton, Matthew, Enshaei, Amir, Russell, Lisa J., Kingsbury, Zoya, Peden, John F., Barretta, Emilio, Murray, James, Gibson, Jude, Hinchliffe, Andrew C., Bain, Robert, Vora, Ajay, Bentley, David R., Ross, Mark T., Moorman, Anthony V., Harrison, Christine J.
Publicado 2022

Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia

por Ryan, Sarra L., Peden, John F., Kingsbury, Zoya, Schwab, Claire J., James, Terena, Polonen, Petri, Mijuskovic, Martina, Becq, Jenn, Yim, Richard, Cranston, Ruth E., Hedges, Dale J., Roberts, Kathryn G., Mullighan, Charles G., Vora, Ajay, Russell, Lisa J., Bain, Robert, Moorman, Anthony V., Bentley, David R., Harrison, Christine J., Ross, Mark T.
Publicado 2023

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

por Dolzhenko, Egor, Bennett, Mark F., Richmond, Phillip A., Trost, Brett, Chen, Sai, van Vugt, Joke J. F. A., Nguyen, Charlotte, Narzisi, Giuseppe, Gainullin, Vladimir G., Gross, Andrew M., Lajoie, Bryan R., Taft, Ryan J., Wasserman, Wyeth W., Scherer, Stephen W., Veldink, Jan H., Bentley, David R., Yuen, Ryan K. C., Bahlo, Melanie, Eberle, Michael A.
Publicado 2020

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

por Dolzhenko, Egor, Deshpande, Viraj, Schlesinger, Felix, Krusche, Peter, Petrovski, Roman, Chen, Sai, Emig-Agius, Dorothea, Gross, Andrew, Narzisi, Giuseppe, Bowman, Brett, Scheffler, Konrad, van Vugt, Joke J F A, French, Courtney, Sanchis-Juan, Alba, Ibáñez, Kristina, Tucci, Arianna, Lajoie, Bryan R, Veldink, Jan H, Raymond, F Lucy, Taft, Ryan J, Bentley, David R, Eberle, Michael A
Publicado 2019

BAP1 loss defines a new class of renal cell carcinoma

por Peña-Llopis, Samuel, Vega-Rubín-de-Celis, Silvia, Liao, Arnold, Leng, Nan, Pavía-Jiménez, Andrea, Wang, Shanshan, Yamasaki, Toshinari, Zhrebker, Leah, Sivanand, Sharanya, Spence, Patrick, Kinch, Lisa, Hambuch, Tina, Jain, Suneer, Lotan, Yair, Margulis, Vitaly, Sagalowsky, Arthur I., Summerour, Pia Banerji, Kabbani, Wareef, Wong, S. W. Wendy, Grishin, Nick, Laurent, Marc, Xie, Xian-Jin, Haudenschild, Christian D., Ross, Mark T., Bentley, David R., Kapur, Payal, Brugarolas, James
Publicado 2012

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

por Gross, Andrew M., Ajay, Subramanian S., Rajan, Vani, Brown, Carolyn, Bluske, Krista, Burns, Nicole J., Chawla, Aditi, Coffey, Alison J., Malhotra, Alka, Scocchia, Alicia, Thorpe, Erin, Dzidic, Natasa, Hovanes, Karine, Sahoo, Trilochan, Dolzhenko, Egor, Lajoie, Bryan, Khouzam, Amirah, Chowdhury, Shimul, Belmont, John, Roller, Eric, Ivakhno, Sergii, Tanner, Stephen, McEachern, Julia, Hambuch, Tina, Eberle, Michael, Hagelstrom, R. Tanner, Bentley, David R., Perry, Denise L., Taft, Ryan J.
Publicado 2018

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project

por Robbe, Pauline, Popitsch, Niko, Knight, Samantha J.L., Antoniou, Pavlos, Becq, Jennifer, He, Miao, Kanapin, Alexander, Samsonova, Anastasia, Vavoulis, Dimitrios V, Ross, Mark T., Kingsbury, Zoya, Cabes, Maite, Ramos, Sara D.C., Page, Suzanne, Dreau, Helene, Ridout, Kate, Jones, Louise J, Tuff-Lacey, Alice, Henderson, Shirley, Mason, Joanne, Buffa, Francesca M, Verrill, Clare, Maldonado-Perez, David, Roxanis, Ioannis, Collantes, Elena, Browning, Lisa, Dhar, Sunanda, Damato, Stephen, Davies, Susan, Caulfield, Mark, Bentley, David R., Taylor, Jenny C., Turnbull, Clare, Schuh, Anna
Publicado 2018

The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes

por Pereira, Bernard, Chin, Suet-Feung, Rueda, Oscar M., Vollan, Hans-Kristian Moen, Provenzano, Elena, Bardwell, Helen A., Pugh, Michelle, Jones, Linda, Russell, Roslin, Sammut, Stephen-John, Tsui, Dana W. Y., Liu, Bin, Dawson, Sarah-Jane, Abraham, Jean, Northen, Helen, Peden, John F., Mukherjee, Abhik, Turashvili, Gulisa, Green, Andrew R., McKinney, Steve, Oloumi, Arusha, Shah, Sohrab, Rosenfeld, Nitzan, Murphy, Leigh, Bentley, David R., Ellis, Ian O., Purushotham, Arnie, Pinder, Sarah E., Børresen-Dale, Anne-Lise, Earl, Helena M., Pharoah, Paul D., Ross, Mark T., Aparicio, Samuel, Caldas, Carlos
Publicado 2016

Erratum: The somatic mutation profiles of 2,433 breast cancers refine their genomic and transcriptomic landscapes

por Pereira, Bernard, Chin, Suet-Feung, Rueda, Oscar M., Vollan, Hans-Kristian Moen, Provenzano, Elena, Bardwell, Helen A., Pugh, Michelle, Jones, Linda, Russell, Roslin, Sammut, Stephen-John, Tsui, Dana W. Y., Liu, Bin, Dawson, Sarah-Jane, Abraham, Jean, Northen, Helen, Peden, John F., Mukherjee, Abhik, Turashvili, Gulisa, Green, Andrew R., McKinney, Steve, Oloumi, Arusha, Shah, Sohrab, Rosenfeld, Nitzan, Murphy, Leigh, Bentley, David R., Ellis, Ian O., Purushotham, Arnie, Pinder, Sarah E., Børresen-Dale, Anne-Lise, Earl, Helena M., Pharoah, Paul D., Ross, Mark T., Aparicio, Samuel, Caldas, Carlos
Publicado 2016

Detection of long repeat expansions from PCR-free whole-genome sequence data

por Dolzhenko, Egor, van Vugt, Joke J.F.A., Shaw, Richard J., Bekritsky, Mitchell A., van Blitterswijk, Marka, Narzisi, Giuseppe, Ajay, Subramanian S., Rajan, Vani, Lajoie, Bryan R., Johnson, Nathan H., Kingsbury, Zoya, Humphray, Sean J., Schellevis, Raymond D., Brands, William J., Baker, Matt, Rademakers, Rosa, Kooyman, Maarten, Tazelaar, Gijs H.P., van Es, Michael A., McLaughlin, Russell, Sproviero, William, Shatunov, Aleksey, Jones, Ashley, Al Khleifat, Ahmad, Pittman, Alan, Morgan, Sarah, Hardiman, Orla, Al-Chalabi, Ammar, Shaw, Chris, Smith, Bradley, Neo, Edmund J., Morrison, Karen, Shaw, Pamela J., Reeves, Catherine, Winterkorn, Lara, Wexler, Nancy S., Housman, David E., Ng, Christopher W., Li, Alina L., Taft, Ryan J., van den Berg, Leonard H., Bentley, David R., Veldink, Jan H., Eberle, Michael A.
Publicado 2017

Genome Sequencing and Analysis of the Tasmanian Devil and Its Transmissible Cancer

por Murchison, Elizabeth P., Schulz-Trieglaff, Ole B., Ning, Zemin, Alexandrov, Ludmil B., Bauer, Markus J., Fu, Beiyuan, Hims, Matthew, Ding, Zhihao, Ivakhno, Sergii, Stewart, Caitlin, Ng, Bee Ling, Wong, Wendy, Aken, Bronwen, White, Simon, Alsop, Amber, Becq, Jennifer, Bignell, Graham R., Cheetham, R. Keira, Cheng, William, Connor, Thomas R., Cox, Anthony J., Feng, Zhi-Ping, Gu, Yong, Grocock, Russell J., Harris, Simon R., Khrebtukova, Irina, Kingsbury, Zoya, Kowarsky, Mark, Kreiss, Alexandre, Luo, Shujun, Marshall, John, McBride, David J., Murray, Lisa, Pearse, Anne-Maree, Raine, Keiran, Rasolonjatovo, Isabelle, Shaw, Richard, Tedder, Philip, Tregidgo, Carolyn, Vilella, Albert J., Wedge, David C., Woods, Gregory M., Gormley, Niall, Humphray, Sean, Schroth, Gary, Smith, Geoffrey, Hall, Kevin, Searle, Stephen M.J., Carter, Nigel P., Papenfuss, Anthony T., Futreal, P. Andrew, Campbell, Peter J., Yang, Fengtang, Bentley, David R., Evers, Dirk J., Stratton, Michael R.
Publicado 2012