Research output per year
Research output per year
Personal profile
Research interests
My research focuses on using large-scale genomic datasets to study genetic relationships within populations, particularly by identifying shared chromosomal stretches (haplotypes) and investigating the role of variation in genetic diversity and disease. I develop statistical methods to extract meaningful insights from noisy genomic data, such as low-coverage whole-genome sequencing and SNP arrays. Currently, a main focus of my research is characterizing structural variation in human genomes and its impact on health, exploring applications ranging from understanding population structure to uncovering the genetic basis of diseases.
Curriculum vitae
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Sep 2024 – present |
FIMM-EMBL Group leader. Institute of Molecular Medicine Finland, University of Helsinki, Helsinki, Finland. |
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Jan 2023 – Aug 2024 |
Postdoctoral Fellow. Department of Medicine, Division of Genetics, Brigham and Women’s Hospital and Harvard Medical School, Boston, United States of America. Advisor: Prof. Po-Ru Loh |
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Nov 2019 – Dec 2022 |
Postdoctoral Fellow. Department of Computational Biology, University of Lausanne, Lausanne, Switzerland. Advisor: Prof. Olivier Delaneau |
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Jul 2016 – Oct 2016 |
Research Assistant. Department of Computer Science, University of Oxford, Oxford, United Kingdom. “Approaches to simulating cell-based models of epithelial tissues”. Report. |
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May 2016 – Jul 2016 |
Research Assistant. Department of Computer Science, University of Oxford, Oxford, United Kingdom. “Phasing methods on large scale datasets using rare variants”. Report. |
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Mar 2015 – Sep 2015 |
Research Assistant. Department of Computer Science, University of Milano-Bicocca, Milan, Italy. “Off-lattice simulations using spatio-temporal logics”. Report. |
GRANTS AND AWARDS
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Nov 2024 |
Epstein Award for Excellence in Genetics Research, Finalist (Postdoc), ASHG 2024 |
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Jan 2024 – present |
UK Biobank enhanced credit programme. 20,000 GBP |
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Jan 2023 – Aug 2024 |
Swiss National Science Foundation Postdoc.Mobility fellowship. 122,530 CHF “Fitting penalised linear regression models on large scale genetic datasets”. SNSF data portal. |
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Oct 2020 |
Epstein Award for Excellence in Genetics Research, Semifinalist (Postdoc), ASHG 2020 |
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Oct 2015 – Oct 2019 |
Engineering and Physical Sciences Research Council. PhD salary award. 56,244 GBP |
Education information
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Oct 2016 – Jan 2020 |
DPhil, Department of Statistics, University of Oxford, Oxford, United Kingdom. Advisors: Prof. Jonathan Marchini and Prof. Pier Francesco Palamara |
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Oct 2015 – Oct 2016 |
Postgraduate student, Systems Biology Doctoral Training Centre, University of Oxford, Oxford, United Kingdom. |
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Jan 2014 – Aug 2014 |
Visiting researcher (MSc thesis), Department of Computer Science, University of Oxford, Oxford, United Kingdom. |
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Oct 2012 – Mar 2015 |
MSc, Computer Science, University of Milano-Bicocca, Milan, Italy |
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Sep 2009 – Sep 2012 |
BSc, Computer Science, University of Milano-Bicocca, Milan, Italy |
Description of research and teaching
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2020 – 2022 |
Bachelor’s degree in Biology, 3rd year students, University of Lausanne Teacher for the course “Experimental design and statistical analysis”. |
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2016 – 2018 |
Doctoral students, University of Oxford Teaching assistant. Statistics course. Gibbs sampling and stochastic differential equations. |
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2013 – 2014 |
BSc in Computer Science, 1st year students, University of Milano-Bicocca Teacher for the course "Mathematical Foundation of Computer Science" |
External positions
Researcher, Broad Institute
1 Feb 2023 → …
Fields of Science
- 112 Statistics and probability
- 1184 Genetics, developmental biology, physiology
- 113 Computer and information sciences
International and National Collaboration
Publications and projects within past five years.
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A Genomics England haplotype reference panel and imputation of UK Biobank
Shi, S., Rubinacci, S., Hu, S., Moutsianas, L., Stuckey, A., Need, A. C., Palamara, P. F., Caulfield, M., Marchini, J. & Myers, S., 2024, In: Nature Genetics. 56, 9, p. 1800-1803 4 p.Research output: Contribution to journal › Article › Scientific › peer-review
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A resampling-based approach to share reference panels
Cavinato, T., Rubinacci, S., Malaspinas, A.-S. & Delaneau, O., 2024, In: Nature computational science. p. 1-7 7 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Assessing the impact of post-mortem damage and contamination on imputation performance in ancient DNA
Garrido Marques, A., Rubinacci, S., Malaspinas, A.-S., Delaneau, O. & Sousa da Mota, B., 2024, In: Scientific Reports. 14, 1, p. 6227 1 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank
Hofmeister, R. J., Ribeiro, D. M., Rubinacci, S. & Delaneau, O., 2023, In: Nature Genetics. 55, 7, p. 1243-1249 7 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Imputation of ancient human genomes
Sousa da Mota, B., Rubinacci, S., Cruz Dávalos, D. I., G. Amorim, C. E., Sikora, M., Johannsen, N. N., Włodarczak, P., Malaspinas, A.-S. & Delaneau, O., 2023, In: Nature Communications. 14, 1, p. 3660 1 p.Research output: Contribution to journal › Article › Scientific › peer-review
Projects
- 2 Active
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Yliopiston profilointi 8 - DIVSOL - Humt
Airavaara, M. (Project manager), Eronen, J. T. (Project manager), Hietakangas, V. (Project manager), Huiskonen, J. (Project manager), Kaartinen, T. (Project manager), Kangasharju, J. (Project manager), Kouvonen, P. J. (Project manager), Martikainen, P. (Project manager), Mäkelä, J. (Project manager), Niemi, M. (Project manager), Ojanen, T. (Project manager), Pönkä, V. (Project manager), Ripatti, S. (Project manager), Räsänen, A. (Project manager), Simojoki, H. (Project manager), Sinnemäki, K. (Project manager), Suomalainen Wartiovaara, A. (Project manager), Toivonen, R. (Project manager), Toom, A. (Project manager), Enkavi, G. (Participant), Fogelholm, M. (Participant), Heinonen, M. (Participant), Jahnukainen, M. (Participant), Jeltsch, M. (Participant), Korhonen, K. (Participant), Laaksonen, T. (Participant), Lindh, I. (Participant), McWilliams, T. (Participant), Paavilainen, V. (Participant), Pajari, A.-M. (Participant), Pitkänen, E. (Participant), Repo, H. D. (Participant), Rubinacci, S. (Participant) & Sandell, M. (Participant)
Academy of Finland, Suomen Akatemia Projektilaskutus, Suomen Akatemia Talous/Paula Pesola
01/01/2025 → 31/12/2030
Project: Research Council of Finland: Strengthening university research profiles (PROFI)
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Integrating identity-by-descent and phasing to unveil novel insights on disease mechanisms.
Rubinacci, S. (Project manager)
02/09/2024 → 31/08/2029
Project: Research project
Activities
- 2 Prizes and awards - Prizes and awards
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Postdoctoral finalist: ASHG Trainee Research Excellence Award
Rubinacci, S. (Participant)
2024Activity: Other activity types › Prizes and awards - Prizes and awards
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Postdoctoral semifinalist: ASHG Trainee Research Excellence Award
Rubinacci, S. (Participant)
2020Activity: Other activity types › Prizes and awards - Prizes and awards