Alexandra Martin-Geary
PhD
Postdoctoral Bioinformatician
Alex 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.
Alex is a big fan of outreach and inclusivity, and firmly believes that science can be fun and rewarding for everyone.
In her spare time Alex enjoys cheese, sci-fi, computer games, and visiting beautiful (and historic) places.
Recent publications
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Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.
Journal article
Lord J. et al, (2024), Genet Med, 26
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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Journal article
Chen Y. et al, (2024), Nature, 632, 832 - 840
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Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes.
Journal article
Wieder N. et al, (2024), Genome Biol, 25
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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Preprint
Chen Y. et al, (2024)
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Differences in 5’untranslated regions highlight the importance of translational regulation of dosage sensitive genes
Preprint
Wieder N. et al, (2023)