An integrated pipeline designed to address challenges in PRS calculation, risk stratification, and individual-level interpretation is presented, establishing a comprehensive toolbox for PRS analysis and enhancing reproducibility, transparency, and usability in both research and clinical contexts.
This review outlines four major PRS-informed design strategies: tail sampling based on PRS extremes; discordance sampling based on mismatch between phenotype and PRS-implied risk; conditional and stratified genome-wide association analyses using PRS to adjust for / partition background risk; and residual phenotype anal...
Hui-Qi Qu, H. Hakonarson· Human Genetics· 0 citations
Background Phenotype-genotype associations underpin precision medicine by enabling disease prevention, early diagnosis, risk stratification, therapeutic target discovery, and personalized treatment. However, the rapid growth of scientific evidence has made manual curation of these associations increasingly labor-intens...
Caiwan Sun, Yi Xin, Sarah Zeng et al.· bioRxiv· 0 citations
Functional annotation-informed PRSs and expanded reference panels modestly improved prediction, particularly among EA participants, and limited performance among AA participants underscores the need for larger, more diverse genomic datasets and integrative models incorporating genetic, clinical, lifestyle, and social d...
N. Armstrong, V. Srinivasasainagendra, Amit Patki et al.· Frontiers in Bioinformatics· 0 citations
STRATUM offers a consequence-tiered model for quality and reporting in applied metagenomics, supporting reproducible, transparent, and defensible sequencing-based surveillance across public health and biodefense domains.
J. A. Russell, I. Keenum, Karen G. Jarvis et al.· Journal of AOAC Internationa...· 0 citations
Genetic association analyses of exome sequencing data pose distinct methodological challenges in small cohorts, which are common in rare disease research. Data filtering prior to association testing requires particular care, especially when analyzing datasets generated under different study designs. Most of current gen...
Piotr Suszyński, Tomasz Gambin· bioRxiv· 0 citations
This review summarizes the principles of PRS, the main sources of variability between models, and its potential applications in risk stratification and personalized cancer screening and addresses limitations in transferability, the need for calibration, and the currently limited evidence for improvements in hard clinic...
Adéla Mišove, E. Macháčková, Klára Nováková et al.· Klinicka onkologie· 0 citations
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