Implementing a genomic data management system using iRODS in the Wellcome Trust Sanger Institute

by Sale Kevin, Qi Guoying, Clapham Peter, Chiang Gen-Tao, Coates Guy
Published 2011-09-01

Missing heritability and where to find it

by Santhosh Girirajan
Published 2017-05-01

Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations

by Yali Xue, Massimo Mezzavilla, Marc Haber, Shane McCarthy, Yuan Chen, Vagheesh Narasimhan, Arthur Gilly, Qasim Ayub, Vincenza Colonna, Lorraine Southam, Christopher Finan, Andrea Massaia, Himanshu Chheda, Priit Palta, Graham Ritchie, Jennifer Asimit, George Dedoussis, Paolo Gasparini, Aarno Palotie, Samuli Ripatti, Nicole Soranzo, Daniela Toniolo, James F. Wilson, Richard Durbin, Chris Tyler-Smith, Eleftheria Zeggini
Published 2017-06-01

Mutational signatures of ionizing radiation in second malignancies

by Sam Behjati, Gunes Gundem, David C. Wedge, Nicola D. Roberts, Patrick S. Tarpey, Susanna L. Cooke, Peter Van Loo, Ludmil B. Alexandrov, Manasa Ramakrishna, Helen Davies, Serena Nik-Zainal, Claire Hardy, Calli Latimer, Keiran M. Raine, Lucy Stebbings, Andy Menzies, David Jones, Rebecca Shepherd, Adam P. Butler, Jon W. Teague, Mette Jorgensen, Bhavisha Khatri, Nischalan Pillay, Adam Shlien, P. Andrew Futreal, Christophe Badie, ICGC Prostate Group, Ultan McDermott, G. Steven Bova, Andrea L. Richardson, Adrienne M. Flanagan, Michael R. Stratton, Peter J. Campbell
Published 2016-09-01

Exploiting induced pluripotent stem cell-derived macrophages to unravel host factors influencing Chlamydia trachomatis pathogenesis

by Amy T. Y. Yeung, Christine Hale, Amy H. Lee, Erin E. Gill, Wendy Bushell, David Parry-Smith, David Goulding, Derek Pickard, Theodoros Roumeliotis, Jyoti Choudhary, Nick Thomson, William C. Skarnes, Gordon Dougan, Robert E. W. Hancock
Published 2017-04-01

Correction to: PiggyBac mutagenesis and exome sequencing identify genetic driver landscapes and potential therapeutic targets of EGFR-mutant gliomas

by Imran Noorani, Jorge de la Rosa, Yoon Ha Choi, Alexander Strong, Hannes Ponstingl, M. S. Vijayabaskar, Jusung Lee, Eunmin Lee, Angela Richard-Londt, Mathias Friedrich, Federica Furlanetto, Rocio Fuente, Ruby Banerjee, Fengtang Yang, Frances Law, Colin Watts, Roland Rad, George Vassiliou, Jong Kyoung Kim, Thomas Santarius, Sebastian Brandner, Allan Bradley
Published 2020-08-01

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

by Lorraine Southam, Arthur Gilly, Dániel Süveges, Aliki-Eleni Farmaki, Jeremy Schwartzentruber, Ioanna Tachmazidou, Angela Matchan, Nigel W. Rayner, Emmanouil Tsafantakis, Maria Karaleftheri, Yali Xue, George Dedoussis, Eleftheria Zeggini
Published 2017-05-01

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma

by Sam Behjati, Patrick S. Tarpey, Kerstin Haase, Hongtao Ye, Matthew D. Young, Ludmil B. Alexandrov, Sarah J. Farndon, Grace Collord, David C. Wedge, Inigo Martincorena, Susanna L. Cooke, Helen Davies, William Mifsud, Mathias Lidgren, Sancha Martin, Calli Latimer, Mark Maddison, Adam P. Butler, Jon W. Teague, Nischalan Pillay, Adam Shlien, Ultan McDermott, P. Andrew Futreal, Daniel Baumhoer, Olga Zaikova, Bodil Bjerkehagen, Ola Myklebost, M. Fernanda Amary, Roberto Tirabosco, Peter Van Loo, Michael R. Stratton, Adrienne M. Flanagan, Peter J. Campbell
Published 2017-06-01

A gene expression resource generated by genome-wide lacZ profiling in the mouse

by Elizabeth Tuck, Jeanne Estabel, Anika Oellrich, Anna Karin Maguire, Hibret A. Adissu, Luke Souter, Emma Siragher, Charlotte Lillistone, Angela L. Green, Hannah Wardle-Jones, Damian M. Carragher, Natasha A. Karp, Damian Smedley, Niels C. Adams, Sanger Institute Mouse Genetics Project, James N. Bussell, David J. Adams, Ramiro Ramírez-Solis, Karen P. Steel, Antonella Galli, Jacqueline K. White
Published 2015-11-01

Invasive Salmonella typhimurium populations from Sub-Saharan Africa: Transmission and adaptation dynamics

by C.K. Okoro, R.A. Kingsley, L. Barquist, H.R. Simon, T.R. Connor, M. Arends, J. Parkhill, G. Dougan
Published 2014-04-01

P113 is a merozoite surface protein that binds the N terminus of Plasmodium falciparum RH5

by Francis Galaway, Laura G. Drought, Maria Fala, Nadia Cross, Alison C. Kemp, Julian C. Rayner, Gavin J. Wright
Published 2017-02-01

Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer

by Adam Shlien, Keiran Raine, Fabio Fuligni, Roland Arnold, Serena Nik-Zainal, Serge Dronov, Lira Mamanova, Andrej Rosic, Young Seok Ju, Susanna L. Cooke, Manasa Ramakrishna, Elli Papaemmanuil, Helen R. Davies, Patrick S. Tarpey, Peter Van Loo, David C. Wedge, David R. Jones, Sancha Martin, John Marshall, Elizabeth Anderson, Claire Hardy, Violetta Barbashina, Samuel A.J.R. Aparicio, Torill Sauer, Øystein Garred, Anne Vincent-Salomon, Odette Mariani, Sandrine Boyault, Aquila Fatima, Anita Langerød, Åke Borg, Gilles Thomas, Andrea L. Richardson, Anne-Lise Børresen-Dale, Kornelia Polyak, Michael R. Stratton, Peter J. Campbell
Published 2016-08-01

SRPK1 maintains acute myeloid leukemia through effects on isoform usage of epigenetic regulators including BRD4

by Konstantinos Tzelepis, Etienne De Braekeleer, Demetrios Aspris, Isaia Barbieri, M. S. Vijayabaskar, Wen-Hsin Liu, Malgorzata Gozdecka, Emmanouil Metzakopian, Hamish D. Toop, Monika Dudek, Samuel C. Robson, Francisco Hermida-Prado, Yu Hsuen Yang, Roya Babaei-Jadidi, Dimitrios A. Garyfallos, Hannes Ponstingl, Joao M. L. Dias, Paolo Gallipoli, Michael Seiler, Silvia Buonamici, Binje Vick, Andrew J. Bannister, Roland Rad, Rab K. Prinjha, John C. Marioni, Brian Huntly, Jennifer Batson, Jonathan C. Morris, Cristina Pina, Allan Bradley, Irmela Jeremias, David O. Bates, Kosuke Yusa, Tony Kouzarides, George S. Vassiliou
Published 2018-12-01

PiggyBac mutagenesis and exome sequencing identify genetic driver landscapes and potential therapeutic targets of EGFR-mutant gliomas

by Imran Noorani, Jorge de la Rosa, Yoonha Choi, Alexander Strong, Hannes Ponstingl, M. S. Vijayabaskar, Jusung Lee, Eunmin Lee, Angela Richard-Londt, Mathias Friedrich, Federica Furlanetto, Rocio Fuente, Ruby Banerjee, Fengtang Yang, Frances Law, Colin Watts, Roland Rad, George Vassiliou, Jong Kyoung Kim, Thomas Santarius, Sebastian Brandner, Allan Bradley
Published 2020-07-01

Improving GENCODE reference gene annotation using a high-stringency proteogenomics workflow

by James C. Wright, Jonathan Mudge, Hendrik Weisser, Mitra P. Barzine, Jose M. Gonzalez, Alvis Brazma, Jyoti S. Choudhary, Jennifer Harrow
Published 2016-06-01

ATM orchestrates the DNA-damage response to counter toxic non-homologous end-joining at broken replication forks

by Gabriel Balmus, Domenic Pilger, Julia Coates, Mukerrem Demir, Matylda Sczaniecka-Clift, Ana C. Barros, Michael Woods, Beiyuan Fu, Fengtang Yang, Elisabeth Chen, Matthias Ostermaier, Tatjana Stankovic, Hannes Ponstingl, Mareike Herzog, Kosuke Yusa, Francisco Munoz Martinez, Stephen T. Durant, Yaron Galanty, Petra Beli, David J. Adams, Allan Bradley, Emmanouil Metzakopian, Josep V. Forment, Stephen P. Jackson
Published 2019-01-01

Enhancing the genome editing toolbox: genome wide CRISPR arrayed libraries

by Emmanouil Metzakopian, Alex Strong, Vivek Iyer, Alex Hodgkins, Konstantinos Tzelepis, Liliana Antunes, Mathias J Friedrich, Qiaohua Kang, Teresa Davidson, Jacob Lamberth, Christina Hoffmann, Gregory D. Davis, George S. Vassiliou, William C. Skarnes, Allan Bradley
Published 2017-05-01

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes

by Vagheesh M. Narasimhan, Raheleh Rahbari, Aylwyn Scally, Arthur Wuster, Dan Mason, Yali Xue, John Wright, Richard C. Trembath, Eamonn R. Maher, David A. van Heel, Adam Auton, Matthew E. Hurles, Chris Tyler-Smith, Richard Durbin
Published 2017-08-01

The driver landscape of sporadic chordoma

by Patrick S. Tarpey, Sam Behjati, Matthew D. Young, Inigo Martincorena, Ludmil B. Alexandrov, Sarah J. Farndon, Charlotte Guzzo, Claire Hardy, Calli Latimer, Adam P. Butler, Jon W. Teague, Adam Shlien, P. Andrew Futreal, Sohrab Shah, Ali Bashashati, Farzad Jamshidi, Torsten O. Nielsen, David Huntsman, Daniel Baumhoer, Sebastian Brandner, Jay Wunder, Brendan Dickson, Patricia Cogswell, Josh Sommer, Joanna J. Phillips, M. Fernanda Amary, Roberto Tirabosco, Nischalan Pillay, Stephen Yip, Michael R. Stratton, Adrienne M. Flanagan, Peter J. Campbell
Published 2017-10-01

Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

by Young Seok Ju, Ludmil B Alexandrov, Moritz Gerstung, Inigo Martincorena, Serena Nik-Zainal, Manasa Ramakrishna, Helen R Davies, Elli Papaemmanuil, Gunes Gundem, Adam Shlien, Niccolo Bolli, Sam Behjati, Patrick S Tarpey, Jyoti Nangalia, Charles E Massie, Adam P Butler, Jon W Teague, George S Vassiliou, Anthony R Green, Ming-Qing Du, Ashwin Unnikrishnan, John E Pimanda, Bin Tean Teh, Nikhil Munshi, Mel Greaves, Paresh Vyas, Adel K El-Naggar, Tom Santarius, V Peter Collins, Richard Grundy, Jack A Taylor, D Neil Hayes, David Malkin, ICGC Breast Cancer Group, ICGC Chronic Myeloid Disorders Group, ICGC Prostate Cancer Group, Christopher S Foster, Anne Y Warren, Hayley C Whitaker, Daniel Brewer, Rosalind Eeles, Colin Cooper, David Neal, Tapio Visakorpi, William B Isaacs, G Steven Bova, Adrienne M Flanagan, P Andrew Futreal, Andy G Lynch, Patrick F Chinnery, Ultan McDermott, Michael R Stratton, Peter J Campbell
Published 2014-10-01