Martin Elferink
Senior Bioinformatician
Utrecht, Utrecht, Netherlands
Summary
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Senior🎓
Top SchoolMartin Elferink is a Senior Bioinformatician with a decade of experience translating next-generation sequencing and genomics research into practical diagnostic tests and trait-improvement tools for human and agricultural applications. Based at UMC Utrecht, he has implemented NGS in routine diagnostics (gene panels, exomes, noninvasive prenatal testing) and combines wet-lab experience with computational skills to pinpoint causal variants underlying monogenic and complex traits. His work spans whole-genome re-sequencing, GWAS, selective sweep detection and structural variant discovery, with a strong interest in evolutionary genomics and multi-omics integration to reveal biological mechanisms. Known for bridging hands-on molecular techniques and scalable bioinformatics pipelines, he focuses on delivering results that move from discovery to usable tests in clinical and breeding contexts. An avid adopter of cutting-edge sequencing approaches, he pairs fast learning with a pragmatic drive to implement technologies that answer real biological questions.
10 years of coding experience
BSc., Molecular Biology, BSc., Molecular Biology at Hogeschool van UtrechtMSc, Bioinformatics, MSc, Bioinformatics at Wageningen University & Research
Dutch, English, German
Github Skills (29)
genome10
bam9
bioinformatics9
diagnostics9
genomics9
pipeline8
nextflow8
genetics8
mass8
mass-spectrometry7
sbml7
systems-biology7
bioconda6
coverage6
nf-core5
Programming languages (8)
Github contributions (5)
UMCUGenetics/Dx_resources
Nov 2015 - Feb 2023
Resources used in diagnostics pipelines
Contributions:22 releases, 108 reviews, 796 commits in 7 years 4 months
pipelinesdiagnosticspipelineworkflow
UMCUGenetics/Dx_UPD
Jun 2021 - Aug 2022
Contributions:1 release, 13 reviews, 6 PRs in 1 year 1 month
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