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Sponsored AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI

Author

H. Hakonarson

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3 papers indexed here

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Open access Oct 2026

Applying AlphaGenome Variant Impact for SNV Prioritization

AlphaGenome Atlas, released in September 2026, provides functional predictions for nearly all possible human single-nucleotide variants using the AlphaGenome Variant Impact (AVI) score. However, empirical thresholds relating AVI quantile rank (AVI_QUANTILE) to clinical variant classifications have not been established....

Hui-Qi Qu, H. Hakonarson · 0 citations
Open access Sep 2026

Precision Medicine 3.0: Integrating Genomic Stratification with Adaptive Therapeutic Trajectories

Complex diseases require therapeutic decisions that adapt as the disease evolves over time and in response to treatment. Current precision medicine remains largely centered on selecting an individual drug or predefined regimen from molecular characteristics measured at a particular time. The next evolution of precision...

Hui-Qi Qu, H. Hakonarson · 0 citations
Review Open access Sep 2026

Polygenic risk scores in human genetics for study design discovery and translation

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 · 0 citations

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