Publications by authors named "Britt Kilian"
Article Synopsis
- The study investigates how genetic variations influence blood-related traits in two isolated populations from the Mediterranean, focusing on individuals from Crete and the Pomak villages in Greece.
- Researchers performed a genome-wide association scan, identifying five rare non-coding genetic variants significantly impacting blood cell counts and distribution.
- A notable portion of the populations carries harmful mutations in the Haemoglobin Subunit Beta (HBB) gene, with distinct mutations prevalent in each group, highlighting the genetic diversity and its effects on various health-related traits.
The aim of this study was to compare and externally validate risk scores developed to predict incident colorectal cancer that include common genetic variants (SNPs), with or without established lifestyle/environmental (questionnaire-based/classical/phenotypic) risk factors. We externally validated 23 risk models from a previous systematic review in 443,888 participants ages 37 to 73 from the UK Biobank cohort who had 6-year prospective follow-up, no prior history of colorectal cancer, and data for incidence of colorectal cancer through linkage to national cancer registries. There were 2,679 (0.
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- Very low-depth sequencing is a promising, cost-effective method for analyzing rare genetic variations in complex traits, but its genotype quality and analytical power still need thorough investigation.
- In a study involving 1,239 individuals from an isolated population, researchers established a reliable process for calling and imputing genotypes from very low-depth whole-genome sequencing, achieving high concordance with traditional high-depth methods.
- The findings revealed that 1× depth sequencing could identify a greater number of true low-frequency variants and produced more significant association signals for quantitative traits compared to conventional genotyping approaches.
Article Synopsis
- The original article had a mistake in Fig. 2, where the labels "rare" and "common" were switched.
- This error has been fixed in both the PDF and HTML formats of the article.
- Readers can now find the correct information in the updated versions.
Article Synopsis
- The study investigates the impact of rare genetic variants on six cardiometabolic traits by analyzing the genomes of 1457 individuals from an isolated population.
- It identifies significant rare regulatory variations that influence traits, separate from known common genetic signals.
- Notably, the research highlights a connection between rare variants in the gene FAM189B and triglyceride levels, emphasizing its potential role in lipid metabolism.
Zebrafish have become a popular organism for the study of vertebrate gene function. The virtually transparent embryos of this species, and the ability to accelerate genetic studies by gene knockdown or overexpression, have led to the widespread use of zebrafish in the detailed investigation of vertebrate gene function and increasingly, the study of human genetic disease. However, for effective modelling of human genetic disease it is important to understand the extent to which zebrafish genes and gene structures are related to orthologous human genes.
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