Hilary Finucane

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Variant scoring performance across selection regimes depends on variant-to-gene and gene-to-disease components

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.
Cell-type-specific Alzheimer’s disease polygenic risk scores are associated with distinct disease processes in Alzheimer’s disease - Nature Communications

Nov 30, 2023 | nature.com | Hyun-Sik Yang |Vilas Menon |Hilary Finucane |Hans-Ulrich Klein |Lori B. Chibnik |Julie Schneider | +1 more

AbstractMany of the Alzheimer’s disease (AD) risk genes are specifically expressed in microglia and astrocytes, but how and when the genetic risk localizing to these cell types contributes to AD pathophysiology remains unclear. Here, we derive cell-type-specific AD polygenic risk scores (ADPRS) from two extensively characterized datasets and uncover the impact of cell-type-specific genetic risk on AD endophenotypes.

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