Inherent instability of simple DNA repeats shapes an evolutionarily stable distribution of repeat lengths.
Missing Regulation Between Genetic Association and Transcriptional Abundance for Hypercholesterolemia Genes.
Recurrent patterns of widespread neuronal genomic damage shared by major neurodegenerative disorders.
Polygenic scores capture genetic modification of the adiposity-cardiometabolic risk factor relationship.
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.
