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Comment
. 2025 Aug 28;389(6763):880-881.
doi: 10.1126/science.aea0628. Epub 2025 Aug 28.

Penetrance and variant consequences-Two sides of the same coin?

Harper Raiken  1 , Amelie Stein  1
Affiliations
Comment

Penetrance and variant consequences-Two sides of the same coin?

Harper Raiken et al. Science. .

Abstract

To get more out of genome sequences, the effects of variants need to be quantified.

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  • Machine learning-based penetrance of genetic variants.
    Forrest IS, Vy HMT, Rocheleau G, Jordan DM, Petrazzini BO, Nadkarni GN, Cho JH, Ganapathi M, Huang KL, Chung WK, Do R. Forrest IS, et al. Science. 2025 Aug 28;389(6763):eadm7066. doi: 10.1126/science.adm7066. Epub 2025 Aug 28. Science. 2025. PMID: 40875860

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