Publications by authors named "Anton I Changalidis"
Article Synopsis
- Over the past 20 years, genome-wide association studies (GWAS) have explored the genetic basis of complex human traits, but a comprehensive analysis of variant-level properties influencing the replication of these associations has been lacking in biobank studies.
- A comparison of GWAS summary statistics from the UK Biobank and FinnGen identified 37,148 index variants linked to complex traits, with only 9.5% of these variants being shared between the two cohorts; a significant number (9230 loci) did not replicate.
- The study found that non-replicated variants tend to be rarer and exhibit lower effect sizes, while variants identified only in meta-analysis were more common but still had low effects, underscoring the challenges
Article Synopsis
- Genome-wide association studies (GWAS) help identify genetic factors related to complex human traits and uncover biological processes linked to these traits.* -
- The bioGWAS tool was developed to simulate genotypes, phenotypes, and GWAS summary statistics, making it easier to generate results based on specific genetic variants or pathways.* -
- bioGWAS can recreate complete GWAS datasets and be used to evaluate tools for gene set enrichment analysis, providing valuable resources for improving GWAS data analysis methods.*
Article Synopsis
- Significant advancements in collecting, storing, and analyzing biological samples have led to the establishment of large biobanks worldwide, some housing over a million samples alongside clinical data.
- Biobanks play a crucial role in medical genetics and genomics by offering allele frequency information and enabling large-scale studies across different ancestries.
- Recently, combining data from multiple biobanks has enhanced research capabilities, allowing for more robust genetic association findings, though researchers must be mindful of certain limitations in this trans-biobank approach.
Complications endangering mother or fetus affect around one in seven pregnant women. Investigation of the genetic susceptibility to such diseases is of high importance for better understanding of the disease biology as well as for prediction of individual risk. In this study, we collected and analyzed GWAS summary statistics from the FinnGen cohort and UK Biobank for 24 pregnancy complications.
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