Genomic Analysis

Genomic analyses examine hereditary variations in an individual's DNA. At HeraBiyo, they underpin polygenic risk scoring (PRS) and all personalized health solutions.

Core Genomic Data Types & Processing

• Data source: Whole Genome Sequencing (WGS) or SNP array raw data.
• Genotyping & QC: BWA/GATK for WGS; CEL/IDAT with calling and imputation (Eagle v2/SHAPEIT4) for arrays.
• Standardization: PLINK formatting and quality control ensure reliable scoring and integration.

PRS and Disease Susceptibility

• Local population calibration and ML integration improve PRS accuracy.
• Individual risk estimation for multifactorial diseases (neurological, cardiovascular, diabetes, cancer).
• Scientific basis: Wang Y. et al. (2022), Ge T. et al. (2019) methodological requirements.

Referanslar

• Steinfeldt, J. et al. (2022). Neural network-based integration of polygenic and clinical information... The Lancet Digital Health, 4(2).
• Wang, Y. et al. (2022). Challenges and Opportunities for Developing More Generalizable Polygenic Risk Scores. Annual review of biomedical data science, 5.
• Ge, T. et al. (2019). Polygenic prediction via Bayesian regression and continuous shrinkage priors. Nat Commun 10.