基本信息
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职业迁徙
个人简介
I am a bioinformatician specialising in the analysis of high-throughput genome and exome sequencing experiments and have developed web tools to allow the storage, filtering and visualisation of genomic data. These include MIG (Multi-Image Genome), miR-CRISPR, HEM, Capsequm and Sasquatch. I have generated a number of sample and clinical databases for research groups at the WIMM and have developed a variant analysis database to store and query predicted variants arising from genome-wide sequencing.
研究兴趣
论文共 108 篇作者统计合作学者相似作者
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Kerry A Miller, David A Cruz Walma, Daniel M Pinkas,Rebecca S Tooze, Joshua C Bufton,William Richardson,Charlotte E Manning, Alice E Hunt, Julien Cros, Verity Hartill,Michael J Parker,Simon J McGowan,
Journal of medical geneticsno. 5 (2024): 490-501
CELLno. 25 (2023): 5486-5499.e13
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 55-56
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Alistair T. Pagnamenta,Carme Camps,Edoardo Giacopuzzi,John M. Taylor,Mona Hashim,Eduardo Calpena,Pamela J. Kaisaki, Akiko Hashimoto,Jing Yu, Edward Sanders,Ron Schwessinger,Jim R. Hughes,
GENOME MEDICINEno. 1 (2023): 1-25
Nature communicationsno. 1 (2023): 7216-20
Genetics in Medicineno. 9 (2023): 100883-100883
medRxivno. 5 (2022): 916-+
COSMIC – COVID- Lung Single Cell Mass Cytometry Imaging Consortium STUDY,Praveen Weeratunga,Laura Denney,Joshua A. Bull,Emmanouela Repapi,Martin Sergeant,Rachel Etherington, Chaitanya Vuppussetty,Gareth D.H. Turner,Colin Clelland,Amy Cross,Fadi Issa,
medrxiv(2022)
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