Publications by authors named "V-M Kosma"
Article Synopsis
- Population isolates like Finland provide a unique advantage for genetic research by having concentrated deleterious alleles in low-frequency variants due to historical bottlenecks.
- The FinnGen study aims to analyze data from 500,000 Finnish individuals, focusing on their genomes and health records, particularly as many participants are older and have disease-related data.
- From the analysis of 224,737 participants and additional biobank data, researchers discovered 30 new associations and a total of 2,733 significant genetic links across various diseases, highlighting the importance of low-frequency variants in understanding common diseases.
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
N Engl J Med
February 2021
Background: Genetic testing for breast cancer susceptibility is widely used, but for many genes, evidence of an association with breast cancer is weak, underlying risk estimates are imprecise, and reliable subtype-specific risk estimates are lacking.
Methods: We used a panel of 34 putative susceptibility genes to perform sequencing on samples from 60,466 women with breast cancer and 53,461 controls. In separate analyses for protein-truncating variants and rare missense variants in these genes, we estimated odds ratios for breast cancer overall and tumor subtypes.
Aspartylglycosaminuria (AGU), the most common lysosomal disorder of glycoprotein degradation, is caused by deficient activity of glycosylasparaginase (AGA). AGA-deficient mice share most of the clinical, biochemical and histopathologic characteristics of human AGU disease. In the current study, recombinant human AGA administered i.
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