Article
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
American journal of human genetics - 1 Oct 2020
Althari Sara, Najmi Laeya A, Bennett Amanda J, Aukrust Ingvild, Rundle Jana K, Colclough Kevin, Molnes Janne, Kaci Alba, Nawaz Sameena, van der Lugt Timme, Hassanali Neelam, Mahajan Anubha, Molven Anders, Ellard Sian, McCarthy Mark I, Bjørkhaug Lise, Njølstad Pål Rasmus, Gloyn Anna L
Abstract excerpt
Exome sequencing in diabetes presents a diagnostic challenge because depending on frequency, functional impact, and genomic and environmental contexts, HNF1A variants can cause maturity-onset diabetes of the young (MODY), increase type 2 diabetes risk, or be benign. A correct diagnosis matters as it informs on treatment, progression, and family risk. We describe a multi-dimensional functional dataset of 73 HNF1A...
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