Mar Gonzalez-porta

ENA & BioSamples Team Lead at European Bioinformatics Institute | EMBL-EBI

United Kingdom
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Summary

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Senior
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Top School
Mar Gonzalez-porta is a senior bioinformatician and team leader with 13 years’ experience delivering clinical-scale genomics (WGS and PCR) in ISO 15189 and PHMC settings, currently leading the ENA & BioSamples team at EMBL-EBI. He has driven national-scale programs and product development—from building QC pipelines for a 100K-genome initiative to launching long-read pharmacogenomics workflows in industry—and combines hands-on pipeline engineering with regulatory-quality management. His background spans academic innovation in transcriptomics and splicing (PhD, Cambridge) to operational leadership in high-throughput PCR labs during COVID-19, demonstrating an ability to translate research tools into audited clinical practice. Notably, he has contributed to GA4GH standards for WGS benchmarking and developed openly shared QC and visualization tools, reflecting a commitment to reproducible, community-driven genomics.
code12 years of coding experience
job9 years of employment as a software developer
bookPhD in Bioinformatics Functional Genomics, PhD in Bioinformatics Functional Genomics at University of Cambridge
bookBSc Biotechnology, BSc Biotechnology at Universitat Rovira i Virgili
languagesEnglish, Catalan, Spanish
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Github Skills (33)

seq10
rna-seq10
bioinformatics10
genomics10
npm7
fasta6
pypi6
data-analysis6
bioconda6
reference-implementation6
python6
depth5
fastq5
aggregate5
coverage4

Programming languages (7)

JavaShellC++RJavaScriptmupadPython

Github contributions (5)

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c-BIG/wgs-sample-qc

Feb 2021 - Mar 2022

Repository to host ongoing discussions by GHIF members on developing a reference implementation for QC of WGS results
Contributions:11 commits, 6 PRs, 5 pushes in 1 year
developinghostongoingwgsmembers
mgonzalezporta/tviz

Jan 2014 - Apr 2015

Contributions:30 commits, 1 push in 1 year 3 months
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Mar Gonzalez-porta - ENA & BioSamples Team Lead at European Bioinformatics Institute | EMBL-EBI