Jeremy Guez

Sep 19, 2024 | biorxiv.org | Hilary Finucane |Jeremy Guez |Masahiro Kanai |Sophie Parsa

AbstractVariant scoring methods (VSMs) aid in the interpretation of coding mutations and their potential impact on health, but their evaluation in the context of human genetics applications remains inconsistent. Here, we describe GeneticsGym, a systematic approach to evaluating the real-world impact of VSMs on human genetic analysis across selection regimes.

Sep 11, 2024 | biorxiv.org | Hannah Jacobs |Bram L. Gorissen |Masahiro Kanai |Jeremy Guez

AbstractMost mammalian genes undergo alternative splicing. The splicing of some exons has been acquired or lost in specific mammalian lineages, but differences in splicing within the human population are poorly characterized. Using GTEx tissue transcriptomes from 838 individuals, we identified 56,415 exons which are included in mRNAs in some individuals but entirely excluded from others, which we term 'naturally variable exons' (NVEs).