Research groups
Alexandra Martin-Geary
Postdoctoral Bioinformatician
Alex joined the Computational Rare Disease Genomics group, which uses computational approaches to interpret the role of genetic variants in rare diseases, in October 2020. She is a postdoctoral bioinformatician whose research focuses on the use of computational methods and evolutionary data to better understand an individual’s susceptibility to genetic disease.
Alex gained an undergraduate degree in Archaeological sciences from the university of York, before studying for an MSc bioinformatics and systems biology, and a PhD in Evolutionary bioinformatics of human disease, both at the university of Manchester. During her PhD Alex explored themes related to human heritable, viral, and pathogenic diseases, and their relationship with evolutionary signatures in the human genome.
Recent publications
-
Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease
Journal article
Martin-Geary AC. et al, (2025), Genome Medicine, 17
-
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants
Journal article
Lord J. et al, (2024), Genetics in Medicine, 26, 101249 - 101249
-
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Journal article
Chen Y. et al, (2024), Nature, 632, 832 - 840
-
De novovariants in the non-coding spliceosomal snRNA geneRNU4-2are a frequent cause of syndromic neurodevelopmental disorders
Preprint
Chen Y. et al, (2024)
-
Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes.
Journal article
Wieder N. et al, (2024), Genome biology, 25