Jalwa Afroz

NERINE reveals rare variant associations in gene networks across phenotypes and implicates an SNCA-PRL-LRRK2 subnetwork in Parkinson’s disease

Sumaiya Nazeen, Xinyuan Wang, Autumn R. Morrow, Ronya Strom et autres

Studying the genetic basis of human phenotypes involves two primary strategies. Model-system experiments generate interpretable gene networks but do not establish relevance to human disease. In contrast, statistical genetics identifies variant- and gene-level associations but cannot test mechanistic models. Here, we bridge …

us (code pays fourni par la source)

Graph AI generates neurological hypotheses validated in molecular, organoid, and clinical systems

Ayush Noori, Joaquín Polonuer, Katharina Meyer, Bogdan Budnik et autres

Neurological diseases are the leading global cause of disability, yet most lack disease-modifying treatments. We present PROTON, a heterogeneous graph transformer that generates testable hypotheses across molecular, organoid, and clinical systems. To evaluate PROTON, we apply it to Parkinson's disease (PD), bipolar …

NERINE reveals rare variant associations in gene networks across phenotypes and implicates an SNCA-PRL-LRRK2 subnetwork in Parkinson’s disease

Sumaiya Nazeen, Xinyuan Wang, Autumn Rose Morrow, Ronya Strom et autres

Abstract There are two primary approaches to study the genetic basis of human phenotypes. Experiments in model systems generate interpretable gene networks but, in isolation, do not establish relevance to the human condition. Statistical genetics identifies relevant association signals at the variant …

us (code pays fourni par la source)

Deep sequencing of proteotoxicity modifier genes uncovers a Presenilin-2/beta-amyloid-actin genetic risk module shared among alpha-synucleinopathies

Sumaiya Nazeen, Xinyuan Wang, Dina Zielinski, Isabel Lam et autres

ABSTRACT Whether neurodegenerative diseases linked to misfolding of the same protein share genetic risk drivers or whether different protein-aggregation pathologies in neurodegeneration are mechanistically related remains uncertain. Conventional genetic analyses are underpowered to address these questions. Through careful selection of patients based …

us, au (code pays fourni par la source)