Dr Stuart Aitken
Bioinformatician
Address
- Street
-
MRC Human Genetics Unit
MRC Institute of Genetics and Molecular Medicine - City
- Post code
- EH4 2XU
Research summary
I am a staff bioinformatician and research scientist in medical and regulatory genomics. Both activities involve the processing and interpretation of next generation sequencing data (RNA Seq, ChIP Seq and HiC) to understand transcriptomic and regulatory processes in model systems and in disease. I am also interested in single cell data, analysis and modelling. In many of these analyses I have applied maximum likelihood, expectation maximisation and Bayesian methods to the problems of fitting models to data, and have have previously studied kinetic modelling in systems biology, parameter optimisation and parameter inference.
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Optimizing the Diagnosis of Rare Genomic Disease in the UK and Ireland
In:
New England Journal of Medicine
Research output: Contribution to Journal › Article (Published) -
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
In:
New England Journal of Medicine
DOI: https://doi.org/https://www.nejm.org/doi/10.1056/NEJMoa2209046?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
Research output: Contribution to Journal › Article (E-pub ahead of print) -
IMPROVE-DD: Integrating Multiple Phenotype Resources Optimises Variant Evaluation in genetically determined Developmental Disorders
(9 pages)
In:
Human Genetics and Genomics Advances, vol. 4
DOI: https://doi.org/10.1016/j.xhgg.2022.100162
Research output: Contribution to Journal › Article (Published) -
11β-HSD1 inhibition does not affect murine tumour angiogenesis but may exert a selective effect on tumour growth by modulating inflammation and fibrosis
In:
PLoS ONE, vol. 18, pp. e0255709
DOI: https://doi.org/10.1371/journal.pone.0255709
Research output: Contribution to Journal › Article (Published) -
A dual role for the RNA helicase DHX34 in NMD and pre-mRNA splicing and its function in hematopoietic differentiation
In:
RNA, vol. 28, pp. 1224-1238
DOI: https://doi.org/10.1261/rna.079277.122
Research output: Contribution to Journal › Article (Published)