Publications by authors named "Diane P Fraser"
A Type 1 Diabetes Genetic Risk Score (T1DGRS) aids diagnosis and prediction of Type 1 Diabetes (T1D). While traditionally derived from imputed array genotypes, Whole Genome Sequencing (WGS) provides a more direct approach and is now increasingly used in clinical and research studies. We investigated the concordance between WGS-based and array-based T1DGRS across genetic ancestries in 149,265 UK Biobank participants using WGS, TOPMed-imputed, and 1000 Genomes-imputed array genotypes.
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- Obesity is often viewed as a lifestyle choice rather than a disease, leading to initiatives like the IMI SOPHIA project, which aims to better categorize individuals with obesity based on their disease risk and treatment responses.
- SOPHIA faces challenges due to siloed clinical cohorts, which limit data sharing for biomarker discovery, but tackles this by using a federated database built on open-source DataSHIELD technology that integrates 16 different data sources.
- The project allows secure analysis of combined data without revealing individual patient information, demonstrated through a proof-of-concept analysis linking BMI and blood pressure, which showed results similar to traditional meta-analyses, setting a standard for safe collaborative research.