Senior Bioinformatician in the genome analysis unit at Human Technopole. WGS analysis exploring non-coding and the dark side of the genome.
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Human Technopole
- Milan, Italy
- @supergecko
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RTG Tools: Utilities for accurate VCF comparison and manipulation
Accelerating the deduplication and collapsing process for reads with Unique Molecular Identifiers (UMI). Heavily optimized for scalability and orders of magnitude faster than a previous tool.
Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing
A framework to build Software As A Service (SaaS) platforms for Nextflow pipelines.