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

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

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

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

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

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

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

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

The Human Gene Mutation Database: 2008 update

por Stenson, Peter D, Mort, Matthew, Ball, Edward V, Howells, Katy, Phillips, Andrew D, Thomas, Nick ST, Cooper, David N
Publicado 2009

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

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

Distinct sequence features underlie microdeletions and gross deletions in the human genome

por Qi, Mengling, Stenson, Peter D., Ball, Edward V., Tainer, John A., Bacolla, Albino, Kehrer‐Sawatzki, Hildegard, Cooper, David N., Zhao, Huiying
Publicado 2022

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

por Stenson, Peter D., Mort, Matthew, Ball, Edward V., Evans, Katy, Hayden, Matthew, Heywood, Sally, Hussain, Michelle, Phillips, Andrew D., Cooper, David N.
Publicado 2017

The Human Gene Mutation Database (HGMD(®)): optimizing its use in a clinical diagnostic or research setting

por Stenson, Peter D., Mort, Matthew, Ball, Edward V., Chapman, Molly, Evans, Katy, Azevedo, Luisa, Hayden, Matthew, Heywood, Sally, Millar, David S., Phillips, Andrew D., Cooper, David N.
Publicado 2020

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

por 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.
Publicado 2013

The functional spectrum of low-frequency coding variation

por 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
Publicado 2011

Insights into hominid evolution from the gorilla genome sequence

por 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
Publicado 2012