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Articles by Sini Kerminen
"Global Biobank Analyses Provide Lessons for Developing Polygenic Risk " by Ying Wang, Shinichi Namba et al.
Polygenic risk scores (PRSs) have been widely explored in precision medicine. However, few studies have thoroughly investigated their best practices in global populations across different diseases. We here utilized data from Global Biobank Meta-analysis Initiative (GBMI) to explore methodological considerations and PRS performance in 9 different biobanks for 14 disease endpoints. Specifically, we constructed PRSs using pruning and thresholding (P + T) and PRS-continuous shrinkage (CS).
Changes in the fine-scale genetic structure of Finland through the 20th century
Loading metrics Open Access Peer-reviewed Research Article Sini Kerminen, Nicola Cerioli, Darius Pacauskas, Aki S. Havulinna, Markus Perola, Pekka Jousilahti, Veikko Salomaa, Mark J. Daly, Rupesh Vyas, Samuli Ripatti, Matti Pirinen Sini Kerminen, Nicola Cerioli, Darius Pacauskas, Aki S. Havulinna, Markus Perola, Pekka Jousilahti, Veikko Salomaa, Mark J.
The role of polygenic risk and susceptibility genes in breast cancer over the course of life
Abstract Polygenic risk scores (PRS) for breast cancer have potential to improve risk prediction, but there is limited information on their utility in various clinical situations. Here we show that among 122,978 women in the FinnGen study with 8401 breast cancer cases, the PRS modifies the breast cancer risk of two high-impact frameshift risk variants.
Geographic variation and bias in polygenic scores of complex diseases and traits in Finland
Geographic variation and bias in polygenic scores of complex diseases and traits in Finland Sini Kerminen, Alicia R Martin, Jukka Koskela, Sanni E Ruotsalainen, Aki S Havulinna, Ida Surakka, Aarno Palotie, Markus Perola, Veikko Salomaa, Mark J Daly, Samuli Ripatti, Matti Pirinen bioRxiv 485441; doi: https://doi.org/10.1101/485441
Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland
Finland provides unique opportunities to investigate population and medical genomics because of its adoption of unified national electronic health records, detailed historical and birth records, and serial population bottlenecks.
Haplotype sharing provides insights into fine-scale population history and disease in Finland
Haplotype sharing provides insights into fine-scale population history and disease in Finland Alicia R Martin, Konrad J Karczewski, Sini Kerminen, Mitja Kurki, Antti-Pekka Sarin, Mykyta Artomov, Johan G Eriksson, Tõnu Esko, Giulio Genovese, Aki S Havulinna, Jaako Kaprio, Alexandra Konradi, László Korányi, Anna Kostareva, Minna Männikkö, Andres Metspalu, Markus Perola, Rashmi B Prasad, Olli Raitakari, Oxana Rotar, Veikko Salomaa, Leif Groop, Aarno Palotie, Benjamin M Neale, Samuli Ripatti,...
Fine-Scale Genetic Structure in Finland
AbstractCoupling dense genotype data with new computational methods offers unprecedented opportunities for individual-level ancestry estimation once geographically precisely defined reference data sets become available. We study such a reference data set for Finland containing 2376 such individuals from the FINRISK Study survey of 1997 both of whose parents were born close to each other. This sampling strategy focuses on the population structure present in Finland before the 1950s.
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