Dr Stefano Lise

Stefano Lise

Head of High-Throughput Bioinformatics


Wellcome Trust Centre for Human Genetics, Roosevelt Dr. 
Oxford, OX3 7BN




Research summary

I joined the WTCHG in 2010 to work on the analysis of next generation sequencing data. In 2013 I have taken up the role of Head of High Throughput Bioinformatics. I am responsible for the bioinformatics systems that support the analysis of genomics data in the Centre. I am also involved in several collaborative research projects within the Centre and beyond. I am particularly interested in the role of non-coding variants in causing human diseases.

Before joining the WCTHG, I was at University College London (UCL), working in protein bioinformatics. My research mostly focused on protein-protein interactions and I developed specific expertise in applying machine learning methods to biological data.

My original background is in physics. I graduated from the University of Padova (Italy) and then completed a PhD at the International School for Advanced Studies (SISSA/ISAS) in Trieste (Italy). After a first post-doctoral experience at Imperial College London, I moved into bioinformatics in 2002 thanks to a MRC Training Fellowship.

Selected publications

V Conti, A Carabalona, E Pallesi-Pocachard, E Parrini, RJ Leventer, E Buhler, G McGillivray, FJ Michel, P Striano, D Mei, F Watrin, S Lise, AT Pagnamenta, JC Taylor, U Kini, J Clayton-Smith, F Novara, O Zuffardi, WB Dobyns, IE Scheffer, SP Robertson, SF Berkovic, AvRepresa, DA Keays, C Cardoso, R Guerrini, Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene, Brain 136, 3378-3394 (2013)

AH Németh, AC Kwasniewska, S Lise, R Parolin-Schnekenberg, EBE Becker, KD Bera, ME Shanks, L Gregory, D Buck, MZ Cader, K Talbot, R de Silva, N Fletcher, R Hastings, S Jayawant, PJ Morrison, P Worth, M Taylor, J Tolmie, M O’Regan, UK Ataxia Consortium, R Valentine, E Packham, J Evans, A Seller, J Ragoussis; Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model, Brain 136, 3106-3118 (2013)

ME Shanks, SM Downes, RR Copley, S Lise, J Broxholme, KAZ Hudspith, A Kwasniewska, WIL Davies, MW. Hankins, E Packham, P Clouston, A Seller, AOM Wilkie, JC Taylor, J Ragoussis, AH Németh; Next Generation Sequencing (NGS) as a diagnostic tool for retinal degeneration reveals amuch higher detection rate in early onset disease, Journal of Human Genetics 21, 274–280 (2013)

S Lise*, Y Clarkson*, E Perkins*, A Kwasniewska, ES Akha, R Parolin-Schnekenberg, D Suminaite, J Hope, I Baker, L Gregory, A Green, C Allan, S Lamble, S Jayawant, G Quaghebeur, MZ Cader, S Hughes, RJE Armstrong, A Kanapin, A Rimmer, G Lunter, JB Cazier, D Buck, JC Taylor, D Bentley, G McVean, P Donnelly, SJL Knight, M Jackson, J Ragoussis, AH Nemeth; Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development, PLoS Genetics 8(12): e1003074 (2012)

WIL Davies, SM Downes, JK Fu, ME Shanks, R Copley, S Lise, S Ramsden, GCM Black, K Gibson, RG Foster, MW Hankins, AH Nemeth; Next generation sequencing in healthcare delivery: lessons from the functional analysis of rhodopsin, Genetics in Medicine 14, 891-899 (2012)

AT Pagnamenta*, S Lise*, V Harrison, H Stewart, S Jayawant, G Quaghebeur, AT Deng, VE Murphy, ES Akha, A Rimmer, I Mathieson, SJL Knight, U Kini, JC Taylor, DA Keays; Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies, Journal of Human Genetics 57 (1), 70-72 (2012)