Founder and lead analyst
Adriano De Marino.
Founder of Helixir Genomics and a precision medicine analyst, with a PhD in precision medicine, genetics and computer science. His background includes more than ten years in genetics and genomic analysis. He currently reviews and signs Helixir reports.
New York Public Library · Fifth Avenue
Drafting Selphi, a new genotype imputation algorithm for human DNA.
At a glance
- Trained in
- Precision medicine · Genetics · Computer science (PhD)
- Background
- 10+ years across companies in the genetics industry, variant interpretation, imputation, polygenic risk scores
- At Helixir
- Founder · analyses every Helixir Genomics genome personally
- Not
- A licensed physician, clinical decisions belong to your doctor
The path here
From scale, to one person at a time.
His PhD, in precision medicine, genetics and computer science, ran between Università degli Studi di Milano-Bicocca and the San Raffaele Telethon Institute for Gene Therapy (SR-TIGET) in Milan. The focus was turning a raw genome into something a person can actually use. After that came years at one of the largest consumer genomics platforms in the world, building the software that reads DNA at huge scale.
His work combines software development with variant interpretation and genetic risk models. At Helixir, automated data analysis supports a scientific review of each report.
The review considers the evidence behind each finding, the limits of the test and the health information provided by the client. The report explains the relevant conclusions in ordinary language.
Credentials
- DoctoratePhD · Precision medicine, Genetics, and Computer science
Università degli Studi di Milano-Bicocca · San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Milan - Industry10+ years across companies in the genetics industry
Variant interpretation · imputation · polygenic risk scores · ancestry inference
Selected publications
Peer-reviewed research on reading DNA, weighing genetic risk and tracing ancestry. The same methods sit behind every analysis written here.
- 2025
Optimization of multi-ancestry polygenic risk score disease prediction models
Lerga-Jaso J, Terpolovsky A, Novković B, … De Marino A, … Yazdi PG
Scientific Reports · doi:10.1038/s41598-025-02903-1
- 2025
Tracing human genetic histories and natural selection with precise local ancestry inference
Lerga-Jaso J, Novković B, Unnikrishnan D, … De Marino A, … Yazdi PG
Nature Communications · doi:10.1038/s41467-025-59936-3
- 2023
Selphi: empowering GWAS discovery through enhanced genotype imputation
De Marino A, Mahmoud AA, Bohn S, et al.
medRxiv (preprint)
- 2022
A comparative analysis of current phasing and imputation software
De Marino A, Mahmoud AA, Bose M, et al.
PLOS ONE · doi:10.1371/journal.pone.0260177
- 2022
Prioritization of putatively detrimental variants in euploid miscarriages
Buonaiuto S, Di Biase I, Aleotti V, et al. (De Marino A)
Scientific Reports · doi:10.1038/s41598-022-05737-3
- 2017
Spermatogenic cycle and steroidogenic control of spermatogenesis in Mytilus galloprovincialis
Prisco M, Agnese M, De Marino A, Andreuccetti P, Rosati L
The Anatomical Record · doi:10.1002/ar.23626
A note
A Precision Medicine Analyst, not a physician.
Adriano is a precision medicine analyst, not a licensed physician. A Helixir Genomics analysis is informational, not clinical. It is written to be read, thought about, and shared with your own doctor. Anything in it that has a clinical consequence is flagged for you to bring to your physician. How deep we read is yours to choose: the deepest read here is whole-genome sequencing, your whole genome about thirty times over rather than a chosen set of positions, reaching the rare and structural variants an array cannot see, with scientific review.
Write to him
Your genome, analyzed by this person.
The one in the photograph. Not a team, not a queue, the same scientist from your first question to your finished analysis.