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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

The Fine-Scale Structure of Recombination Rate Variation in the Human Genome von Gilean A. T. Mc Vean, Myers, Simon R., Hunt, Sarah, Deloukas, Panos, Bentley, David R., Donnelly, Peter

Volltext

Whole-genome re-sequencing von Bentley, David R

Volltext

A dedicated caller for DUX4 rearrangements from whole-genome sequencing data von Grobecker, Pascal, Berri, Stefano, Peden, John F, Chow, Kai-Jie, Fielding, Claire, Armogida, Ivana, Northen, Helen, McBride, David J, Campbell, Peter J, Becq, Jennifer, Ryan, Sarra L, Bentley, David R, Harrison, Christine J, Moorman, Anthony V, Ross, Mark T, Mijuskovic, Martina

Volltext

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I von Babbs, C., Roberts, N. A., Sanchez-Pulido, L., McGowan, S. J., Ahmed, M. R., Brown, J. M., Sabry, M. A., Bentley, D. R., McVean, G. A., Donnelly, P., Gileadi, O., Ponting, C. P., Higgs, D. R., Buckle, V. J.

Volltext

A High-Resolution Linkage-Disequilibrium Map of the Human Major Histocompatibility Complex and First Generation of Tag Single-Nucleotide Polymorphisms von Miretti, Marcos M., Walsh, Emily C., Ke, Xiayi, Delgado, Marcos, Griffiths, Mark, Hunt, Sarah, Morrison, Jonathan, Whittaker, Pamela, Lander, Eric S., Cardon, Lon R., Bentley, David R., Rioux, John D., Beck, Stephan, Deloukas, Panos

Volltext

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

Volltext

Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data von Chen, Xiao, Shen, Fei, Gonzaludo, Nina, Malhotra, Alka, Rogert, Cande, Taft, Ryan J., Bentley, David R., Eberle, Michael A.

Volltext

Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases von Clause, Amanda R., Taylor, Julie P., Rajkumar, Revathi, Bluske, Krista, Bennett, Maren, Amendola, Laura M., Brown, Carolyn, Brown, Matthew P., Buchanan, Amanda, Burns, Brendan, Burns, Nicole J., Chandrasekhar, Anjana, Chawla, Aditi, Golden-Grant, Katie, Kesari, Akanchha, Malhotra, Alka, Milewski, Becky, Sajan, Samin A., Schlachetzki, Zinayida, Schmidt, Sarah, Thomas, Brittany, Thorpe, Erin, Bentley, David R., Taft, Ryan J., Perry, Denise L., Coffey, Alison J.

Volltext

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

Volltext

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data von 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.

Volltext

BAP1 loss defines a new class of renal cell carcinoma von 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

Volltext

A comprehensive catalogue of somatic mutations from a human cancer genome von Pleasance, Erin D., Cheetham, R. Keira, Stephens, Philip J., McBride, David J., Humphray, Sean J., Greenman, Chris D., Varela, Ignacio, Lin, Meng-Lay, Ordóñez, Gonzalo R., Bignell, Graham R., Ye, Kai, Alipaz, Julie, Bauer, Markus J., Beare, David, Butler, Adam, Carter, Richard J., Chen, Lina, Cox, Anthony J., Edkins, Sarah, Kokko-Gonzales, Paula I., Gormley, Niall A., Grocock, Russell J., Haudenschild, Christian D., Hims, Matthew M., James, Terena, Jia, Mingming, Kingsbury, Zoya, Leroy, Catherine, Marshall, John, Menzies, Andrew, Mudie, Laura J., Ning, Zemin, Royce, Tom, Schulz-Trieglaff, Ole B., Spiridou, Anastassia, Stebbings, Lucy A., Szajkowski, Lukasz, Teague, Jon, Williamson, David, Chin, Lynda, Ross, Mark T., Campbell, Peter J., Bentley, David R., Futreal, P. Andrew, Stratton, Michael R.

Volltext

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

Volltext