Do high AlphaGenome variant scores identify drug targets?
An audit of AVI rank units and 12 reported DNM1 splice variants, contrasted with PCSK9 evidence. Published aggregates are recalculated; no model inference or API queries were performed.
Daiki Kumakura
I am a mathematical biologist and a bioinformatics researcher in the pharmaceutical industry. I received my Ph.D. in Life Science from Hokkaido University in March 2025.
I study biological dynamics using mathematical models and data analysis, with an interest in pharmacometrics and systems biology.
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Recent writing
How robust is the FVC signal in the rentosertib phase 2a trial to missing-data assumptions?
Published FVC summaries from the rentosertib phase 2a trial are examined under missing-data assumptions, without determining efficacy, dose or safety.
Before choosing DEG candidates with PIE: average precision versus a follow-up budget
An audit of 10,335 released evaluation rows joins processed DEG labels to average-precision scores. Context-dependent prevalence and paired perturbations clarify what aggregate performance can establish about a limited follow-up budget.