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We develop efficient statistical and computational methods to decode human genetic variation at scale — applying them to biobanks to understand the genetic basis of disease.
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We develop efficient statistical and computational methods to decode human genetic variation at scale, applying them to biobanks to understand the genetic basis of disease.
{ icon: '🧬', title: 'Structural Variation & Disease', body: 'Large genomic rearrangements — deletions, duplications, inversions — shape disease risk. We integrate multi-omics data to decode their functional consequences at biobank scale.' },
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{ icon: '🧬', title: 'Structural Variation & Disease', body: 'Large genomic rearrangements (deletions, duplications, inversions) shape disease risk. We integrate multi-omics data to decode their functional consequences at biobank scale.' },
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{ icon: '🌍', title: 'Population Haplotypes & IBD', body: 'We identify shared haplotype segments across populations to illuminate human history and enable novel disease mapping via identity-by-descent analysis.' },
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{ icon: '⚡', title: 'Scalable Algorithms', body: 'We design algorithms that process millions of genomes efficiently. Our tools have shaped multiple UK Biobank releases and are widely adopted globally.' },
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{ icon: '🔬', title: 'Low-Coverage Imputation', body: 'lcWGS + imputation is now competitive with SNP arrays. We push accuracy to ultra-rare variants at coverages as low as 0.1× for under $1 per genome.' },
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{ icon: '📊', title: 'Biobank-Scale Phasing', body: 'We phase rare and singleton variants accurately without family data — a longstanding barrier — enabling compound heterozygous disease detection.' },
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{ icon: '📊', title: 'Biobank-Scale Phasing', body: 'We phase rare and singleton variants accurately without family data, enabling compound heterozygous disease detection.' },
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{ icon: '🏥', title: 'Multi-Omics Integration', body: 'We integrate genetic variation with transcriptomics, proteomics, and other molecular layers to trace how genomic changes propagate to disease.' },
<pclass="font-mono text-[0.68rem] tracking-[0.18em] uppercase text-teal-600 mb-3">Our work for the community</p>
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<h2class="font-serif text-3xl text-stone-900 font-normal mb-5">Shaping the field with widely used, computationally efficient tools</h2>
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<pclass="text-stone-500 leading-relaxed mb-4">We actively contribute through conference talks, workshops, and open-source software — presented at ESHG, ASHG, and other international conferences.</p>
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<pclass="text-stone-500 leading-relaxed">Methods papers should be accompanied by robust, well-documented software usable by anyone — from large biobanks to individual labs with limited compute.</p>
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<pclass="text-stone-500 leading-relaxed mb-4">We actively contribute through conference talks, workshops, and open-source software, presented at ESHG, ASHG, and other international conferences.</p>
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<pclass="text-stone-500 leading-relaxed">Methods papers should be accompanied by robust, well-documented software usable by anyone, from large biobanks to individual labs with limited compute.</p>
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bio: [
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"Simone is a Group Leader at FIMM and a Research Fellow at Brigham and Women's Hospital and Harvard Medical School. He earned his DPhil from the Department of Statistics at the University of Oxford.",
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"His research leverages large-scale genomic datasets to uncover genetic relationships within individuals and across populations — focusing on shared chromosomal segments (haplotypes) and how genetic variation shapes diversity and disease. A core aspect of his work involves developing statistical methods to extract meaningful insights from noisy genomic data, including low-coverage whole-genome sequencing and SNP arrays.",
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"His current primary focus is on characterising structural variation in human genomes and investigating its implications for health — bridging fundamental genetic insights with translational applications across population structure and disease genetics.",
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"His research leverages large-scale genomic datasets to uncover genetic relationships within individuals and across populations, focusing on shared chromosomal segments (haplotypes) and how genetic variation shapes diversity and disease. A core aspect of his work involves developing statistical methods to extract meaningful insights from noisy genomic data, including low-coverage whole-genome sequencing and SNP arrays.",
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"His current primary focus is on characterising structural variation in human genomes and investigating its implications for health, bridging fundamental genetic insights with translational applications across population structure and disease genetics.",
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"Marinella is studying in the Life Science Informatics master's programme at the University of Helsinki, with a bachelor's degree in computer science. She is interested in using and developing computational methods to better understand the genomics of complex diseases and traits.",
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"In the lab she is developing a method for pharmacogenomics — specifically genotyping CYP2D6 — and using it to analyse drug purchase trajectories in large biobank cohorts.",
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"In the lab she is developing a method for pharmacogenomics, specifically genotyping CYP2D6, and using it to analyse drug purchase trajectories in large biobank cohorts.",
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"Alisa is finishing her master's studies in the Genetics and Molecular Biosciences programme at the University of Helsinki, with a bachelor's degree in molecular biosciences. She is particularly interested in human genetics, bioinformatics, and women's health research.",
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"In the group she is working on her master's thesis in collaboration with the FIMM Sequencing Unit — developing pipelines for genotyping using low-coverage whole-genome sequencing (lcWGS), focusing on applications to polygenic risk scores and rare-variant burden estimation.",
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"In the group she is working on her master's thesis in collaboration with the FIMM Sequencing Unit, developing pipelines for genotyping using low-coverage whole-genome sequencing (lcWGS), focusing on applications to polygenic risk scores and rare-variant burden estimation.",
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"In her free time she enjoys cooking, reading, and dancing.",
The Computational and Statistical Genomics group is based at FIMM–EMBL and works at the interface of computational genomics, population genetics, and large-scale human datasets. We bring together researchers with diverse backgrounds — united by a shared passion for methods, ambitious science, and the ongoing challenge of mastering Finnish winter.
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The Computational and Statistical Genomics group is based at FIMM–EMBL and works at the interface of computational genomics, population genetics, and large-scale human datasets. We bring together researchers with diverse backgrounds, united by a shared passion for methods, ambitious science, and the ongoing challenge of mastering Finnish winter.
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