Dr Simon Sadedin
Dr Simon Sadedin
Details
Role
Head of Clinical Bioinformatics
Group
Bioinformatics
Top Publications
- Sadedin, SP, Oshlack, A. Bazam: A rapid method for read extraction and realignment of high throughput sequencing data. 433003 2026 view publication
- Dashnow, H, Lek, M, Phipson, B, Halman, A, Sadedin, S, Lonsdale, A, Davis, M, Lamont, P, Clayton, JS, Laing, NG, et al. STRetch: detecting and discovering pathogenic short tandem repeat expansions. 159228 2026 view publication
- Stark, Z, Lunke, S, Downie, L, Caruana, J, Kugenthiran, N, De Fazio, P, Hollizeck, S, Bouffler, S, Amor, D, Archibald, A, et al. Genomic newborn screening: feasibility, acceptability and clinical outcomes. 2026 view publication
- Lunke, S, Downie, L, Caruana, J, Kugenthiran, N, De Fazio, P, Hollizeck, S, Bouffler, SE, Amor, DJ, Archibald, AD, Bombard, Y, et al. Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.. Nat Med 31(12) : 4236 -4245 2025 view publication
- Welland, MJ, Ahlquist, KD, De Fazio, P, Austin-Tse, C, Pais, L, Wedd, L, Bryen, S, Rius, R, Franklin, M, Morrison, C, et al. Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.. 2025 view publication
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