Matt Welland
Matt Welland
Matt is a Computational Biologist in the Rare Disease Analysis team with a focus on developing software to find diagnoses within large genomic datasets. His experience has primarily been in the clinical space, in both NHS diagnostic laboratories and population-scale genomic medicine initiatives.
Matt is a Computational Biologist in the Rare Disease Analysis team with a focus on developing software to find diagnoses within large genomic datasets. His experience has primarily been in the clinical space, in both NHS diagnostic laboratories and...
Matt is a Computational Biologist in the Rare Disease Analysis team with a focus on developing software to find diagnoses within large genomic datasets. His experience has primarily been in the clinical space, in both NHS diagnostic laboratories and population-scale genomic medicine initiatives.
Top Publications
- Cuomo, ASE, Spenceley, E, Tanudisastro, HA, Bowen, B, Henry, A, Huang, HL, Xue, A, Zhou, W, Welland, MJ, Bryen, SJ, et al. Impact of rare and common genetic variation on cell type-specific gene expression in human blood. 2026 view publication
- Mitchell, LA, Schmidt, J, Souzeau, E, Knight, LSW, Maxwell, G, Dubowsky, A, Lim, R, Formaini, E, Welland, M, Simons, C, et al. Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating PITX2 from a conserved enhancer locus.. 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
- Tanudisastro, HA, Cuomo, ASE, Weisburd, B, Welland, M, Spenceley, E, Franklin, M, Xue, A, Bowen, B, Wing, K, Tang, O, et al. Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.. 2025 view publication
- Tse, C, Ahlquist, K, Welland, M, de Fazio, P, Simons, C, Pais, L, Hall, G, Wander, J, Smith, G, Gauthier, L, et al. P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis. Genetics in Medicine Open 3: 103016 2025 view publication
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