The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics

by Stenson, Peter D, Ball, Edward V, Howells, Katy, Phillips, Andrew D, Mort, Matthew, Cooper, David N
Published 2009

Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

by Cooper, David N, Mort, Matthew, Stenson, Peter D, Ball, Edward V, Chuzhanova, Nadia A
Published 2010

Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

by Zhang, Guojie, Pei, Zhang, Ball, Edward V, Mort, Matthew, Kehrer-Sawatzki, Hildegard, Cooper, David N
Published 2011

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

by Stenson, Peter D., Mort, Matthew, Ball, Edward V., Shaw, Katy, Phillips, Andrew D., Cooper, David N.
Published 2013

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

by Mort, Matthew, Sterne-Weiler, Timothy, Li, Biao, Ball, Edward V, Cooper, David N, Radivojac, Predrag, Sanford, Jeremy R, Mooney, Sean D
Published 2014

Guanine Holes Are Prominent Targets for Mutation in Cancer and Inherited Disease

by Bacolla, Albino, Temiz, Nuri A., Yi, Ming, Ivanic, Joseph, Cer, Regina Z., Donohue, Duncan E., Ball, Edward V., Mudunuri, Uma S., Wang, Guliang, Jain, Aklank, Volfovsky, Natalia, Luke, Brian T., Stephens, Robert M., Cooper, David N., Collins, Jack R., Vasquez, Karen M.
Published 2013

The functional spectrum of low-frequency coding variation

by Marth, Gabor T, Yu, Fuli, Indap, Amit R, Garimella, Kiran, Gravel, Simon, Leong, Wen Fung, Tyler-Smith, Chris, Bainbridge, Matthew, Blackwell, Tom, Zheng-Bradley, Xiangqun, Chen, Yuan, Challis, Danny, Clarke, Laura, Ball, Edward V, Cibulskis, Kristian, Cooper, David N, Fulton, Bob, Hartl, Chris, Koboldt, Dan, Muzny, Donna, Smith, Richard, Sougnez, Carrie, Stewart, Chip, Ward, Alistair, Yu, Jin, Xue, Yali, Altshuler, David, Bustamante, Carlos D, Clark, Andrew G, Daly, Mark, DePristo, Mark, Flicek, Paul, Gabriel, Stacey, Mardis, Elaine, Palotie, Aarno, Gibbs, Richard
Published 2011

Insights into hominid evolution from the gorilla genome sequence

by Scally, Aylwyn, Dutheil, Julien Y., Hillier, LaDeana W., Jordan, Greg E., Goodhead, Ian, Herrero, Javier, Hobolth, Asger, Lappalainen, Tuuli, Mailund, Thomas, Marques-Bonet, Tomas, McCarthy, Shane, Montgomery, Stephen H., Schwalie, Petra C., Tang, Y. Amy, Ward, Michelle C., Xue, Yali, Yngvadottir, Bryndis, Alkan, Can, Andersen, Lars N., Ayub, Qasim, Ball, Edward V., Beal, Kathryn, Bradley, Brenda J., Chen, Yuan, Clee, Chris M., Fitzgerald, Stephen, Graves, Tina A., Gu, Yong, Heath, Paul, Heger, Andreas, Karakoc, Emre, Kolb-Kokocinski, Anja, Laird, Gavin K., Lunter, Gerton, Meader, Stephen, Mort, Matthew, Mullikin, James C., Munch, Kasper, O’Connor, Timothy D., Phillips, Andrew D., Prado-Martinez, Javier, Rogers, Anthony S., Sajjadian, Saba, Schmidt, Dominic, Shaw, Katy, Simpson, Jared T., Stenson, Peter D., Turner, Daniel J., Vigilant, Linda, Vilella, Albert J., Whitener, Weldon, Zhu, Baoli, Cooper, David N., de Jong, Pieter, Dermitzakis, Emmanouil T., Eichler, Evan E., Flicek, Paul, Goldman, Nick, Mundy, Nicholas I., Ning, Zemin, Odom, Duncan T., Ponting, Chris P., Quail, Michael A., Ryder, Oliver A., Searle, Stephen M., Warren, Wesley C., Wilson, Richard K., Schierup, Mikkel H., Rogers, Jane, Tyler-Smith, Chris, Durbin, Richard
Published 2012