Informing disease modelling with brain-relevant functional genomic annotations.

ABSTRACT: The past decade has seen a surge in the number of disease/trait-associated variants, largely because of the union of studies to share genetic data and the availability of electronic health records from large cohorts for research use. Variant discovery for neurological and neuropsychiatric genome-wide association studies, including schizophrenia, Parkinson's disease and Alzheimer's disease, has greatly benefitted; however, the translation of these genetic association results to interpretable biological mechanisms and models is lagging. Interpreting disease-associated variants requires knowledge of gene regulatory mechanisms and computational tools that permit integration of this knowledge with genome-wide association study results. Here, we summarize key conceptual advances in the generatio

SUBMITTER: Reynolds RH 

PROVIDER: S-EPMC6885670 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature