| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8348 | 2012 |
| Accurate whole human genome sequencing using reversible terminator chemistry DR Bentley, S Balasubramanian, HP Swerdlow, GP Smith, J Milton, ... nature 456 (7218), 53-59, 2008 | 5117 | 2008 |
| A comprehensive catalogue of somatic mutations from a human cancer genome ED Pleasance, RK Cheetham, PJ Stephens, DJ McBride, SJ Humphray, ... Nature 463 (7278), 191-196, 2010 | 2041 | 2010 |
| Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA M Murtaza, SJ Dawson, DWY Tsui, D Gale, T Forshew, AM Piskorz, ... Nature 497 (7447), 108-112, 2013 | 1935 | 2013 |
| Demographic history and rare allele sharing among human populations S Gravel, BM Henn, RN Gutenkunst, AR Indap, GT Marth, AG Clark, F Yu, ... Proceedings of the National Academy of Sciences 108 (29), 11983-11988, 2011 | 727 | 2011 |
| Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units CJ Saunders, NA Miller, SE Soden, DL Dinwiddie, A Noll, NA Alnadi, ... Science translational medicine 4 (154), 154ra135-154ra135, 2012 | 694 | 2012 |
| Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer M Murtaza, SJ Dawson, K Pogrebniak, OM Rueda, E Provenzano, J Grant, ... Nature communications 6 (1), 8760, 2015 | 521 | 2015 |
| Factors influencing success of clinical genome sequencing across a broad spectrum of disorders JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, ... Nature genetics 47 (7), 717-726, 2015 | 428 | 2015 |
| Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns A Schuh, J Becq, S Humphray, A Alexa, A Burns, R Clifford, SM Feller, ... Blood, The Journal of the American Society of Hematology 120 (20), 4191-4196, 2012 | 386 | 2012 |
| Genome sequencing and analysis of the Tasmanian devil and its transmissible cancer EP Murchison, OB Schulz-Trieglaff, Z Ning, LB Alexandrov, MJ Bauer, ... Cell 148 (4), 780-791, 2012 | 362 | 2012 |
| Detection of long repeat expansions from PCR-free whole-genome sequence data E Dolzhenko, JJ Van Vugt, RJ Shaw, MA Bekritsky, M Van Blitterswijk, ... Genome research 27 (11), 1895-1903, 2017 | 341 | 2017 |
| Whole-genome sequencing provides new insights into the clonal architecture of Barrett's esophagus and esophageal adenocarcinoma CS Ross-Innes, J Becq, A Warren, RK Cheetham, H Northen, ... Nature genetics 47 (9), 1038-1046, 2015 | 313 | 2015 |
| Imaging breast cancer using hyperpolarized carbon-13 MRI FA Gallagher, R Woitek, MA McLean, AB Gill, R Manzano Garcia, ... Proceedings of the National Academy of Sciences 117 (4), 2092-2098, 2020 | 187 | 2020 |
| APOBEC3B upregulation and genomic mutation patterns in serous ovarian carcinoma B Leonard, SN Hart, MB Burns, MA Carpenter, NA Temiz, A Rathore, ... Cancer research 73 (24), 7222-7231, 2013 | 182 | 2013 |
| Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project P Robbe, N Popitsch, SJL Knight, P Antoniou, J Becq, M He, A Kanapin, ... Genetics in Medicine 20 (10), 1196-1205, 2018 | 159 | 2018 |
| Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data X Chen, A Sanchis-Juan, CE French, AJ Connell, I Delon, Z Kingsbury, ... Genetics in Medicine 22 (5), 945-953, 2020 | 105 | 2020 |
| Microbial Metabolism Shifts Towards an Adverse Profile with Supplementary Iron in the TIM-2 In vitro Model of the Human Colon GAM Kortman, BE Dutilh, AJH Maathuis, UF Engelke, J Boekhorst, ... Frontiers in microbiology 6, 1481, 2016 | 83 | 2016 |
| Glioblastoma adaptation traced through decline of an IDH1 clonal driver and macro-evolution of a double-minute chromosome F Favero, N McGranahan, M Salm, NJ Birkbak, JZ Sanborn, SC Benz, ... Annals of Oncology 26 (5), 880-887, 2015 | 50 | 2015 |
| X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 N Miyake, NI Wolf, FK Cayami, J Crawford, A Bley, D Bulas, A Conant, ... Neurogenetics 18, 185-194, 2017 | 48 | 2017 |
| Detection of ctDNA in plasma of patients with clinically localised prostate cancer is associated with rapid disease progression E Lau, P McCoy, F Reeves, K Chow, M Clarkson, EM Kwan, K Packwood, ... Genome medicine 12, 1-11, 2020 | 46 | 2020 |
