Paolo Uva

Head Of Clinical Bioinformatics Unit

Genoa, Liguria, Italy
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Summary

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Senior
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Top School
Paolo Uva is Head of the Clinical Bioinformatics Unit in Genoa with 13 years of experience translating NGS and genome-wide data into answers for inherited disorders. He combines academic rigor—PhD in molecular phylogeny and a Master in bioinformatics—with long-standing roles at CRS4, Merck, and research hospitals, driving pipelines for variant discovery and clinical interpretation. Paolo bridges research and application as an external collaborator with the Istituto Italiano di Tecnologia, steering projects from database and annotation tools to diagnostic-grade analyses. His background in large-scale sequence annotation and custom microarray platforms gives him a rare blend of hands-on data engineering and clinical genetics insight.
code13 years of coding experience
job11 years of employment as a software developer
bookPhD, Molecular phylogeny, PhD, Molecular phylogeny at Université de Tours
bookMaster, Bioinformatics, Master, Bioinformatics at University of Geneva
bookLaurea, Biology, Laurea, Biology at Sapienza Università di Roma
languagesItalian, English, French
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Github Skills (66)

predictor10
galaxy9
vep9
fasta9
bioinformatics9
pypi9
wrapper9
bioconda8
interpretation8
genomics8
variants8
fastq8
webservice8
biodiversity8
sequencing8

Programming languages (9)

C#JavaRCSSC++JavaScriptHTMLPerl

Github contributions (5)

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igg-bioinfo/diva.wes

Sep 2020 - Nov 2024

DiVA (DNA Variant Analysis) is a pipeline for Next-Generation Sequencing Exome data analysis
Contributions:2 releases, 5 PRs, 50 pushes in 4 years 2 months
next-generationdata-analysispipelinednavariant-analysis
crs4/kggseq_archive

Feb 2015 - Jun 2018

Contributions:5 pushes, 1 branch, 6 tags in 3 years 4 months
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Paolo Uva - Head Of Clinical Bioinformatics Unit