Developed resources

Software/platforms

Software, online platforms and collaborative resources developed as part of my work

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Published software and platforms [lead author]

Computational tools

Rare diseases

STRipy

2022–...

Genotyping of known pathogenic short tandem repeats

STRipy is available as both a graphical application and a separate command-line tool for analysing known disease-associated short tandem repeat loci in short-read sequencing data. The graphical version can be used on Linux and macOS systems, requires no bioinformatics knowledge and does not require additional tools to be installed. By selecting a BAM file and a chosen STR locus, the locus can be genotyped on the fly using the free STRipy cloud service.

The "STRipy-pipeline" version is a command-line tool designed for integration into clinical pipelines running on HPC systems. It supports parallel computing and large-scale analysis. STRipy incorporates pathogenic thresholds derived from the literature and population-wide genotyping data, enabling users to easily identify individuals who may be at risk of a repeat expansion disorder.

Precision medicine

BCyrius

2023–...

Accurate and up-to-date CYP2D6 genotyping tool from short reads

BCyrius is an upgraded version of Cyrius, a tool originally developed by Illumina for accurate genotyping but later discontinued. BCyrius can call all star alleles described by PharmVar, offers significantly improved performance and provides comprehensive reporting, including clinical and population data to support interpretation of results in both research and clinical contexts.

Online platforms

Other

Catchii

2023–...

Collaborative and free systematic-review screening platform

Catchii is a completely free, comprehensive and virtually limitless screening application suitable for a wide range of review types, including systematic, scoping and narrative reviews. It supports the full review workflow, from easy reference import and duplicate detection to AI-assisted screening, data extraction and PRISMA flowchart generation. Users can create as many reviews as needed and include any number of reviewers. Catchii provides a strong alternative to leading paid review software, without subscription costs or advertisements.

Rare diseases

STRipy's online resources

2022–...

Curated database of known pathogenic short tandem repeats loci & online tools

STRipy's STRs database is a comprehensive, curated online resource for known disease-associated short tandem repeat loci. It was developed as a stand-alone resource separate from the main software and provides information on pathogenicity, locus structure, genomic location and repeat frequencies across populations.

The website also includes online tools to support the interpretation of bioinformatics analysis results. For example, users can annotate STR loci in VCF files on the fly with information about pathogenicity. Additional tools support ExpansionHunter, a widely used STR genotyping tool, by enabling users to generate STR variant catalogues and interpret its raw output. These tools use the STRs database as their underlying information source, including for determining pathogenic repeat thresholds.

Psychoactive drugs

PPGx knowledgebase

2026-...

Psychedelic Pharmacology and Genomics knowledgebase & prediction tools

PPGx is an online platform that provides curated information on published drug–drug and drug–gene interactions involving psychedelics. The earliest drug–drug interaction evidence dates back to 1955, making the platform a comprehensive resource spanning more than 70 years of research. Evidence is organised by individual interaction pairs and graded according to its strength and quality. The platform also includes published evidence on pharmacogenetic interactions involving psychedelics.

In addition, PPGx incorporates a model for predicting changes in drug exposure based on concomitant medications and individual genetic variation. The platform is designed to inform current and future research and ultimately contribute to the development of the first pharmacogenetic guidelines for psychedelics, supporting a move towards precision psychiatry in psychedelic-assisted therapy.

Published software [co-authored]

Other, computational tools

Rare diseases

Toblerone

2022–2023

Detecting exon deletion events from RNA-seq

A computational method and graphical desktop application for detecting internal exon deletions in RNA-seq data.

Rare diseases

REViewer

2021–2023

Visualising reads around tandem repeats

A haplotype-resolved visualisation tool for read alignments in and around tandem repeats.