Variation within the non-coding genome may influence the regulation and expression of
important genes involved in immune control such as the human leukocyte antigen (HLA) …

The cytotoxic T lymphocyte-associated antigen-4 (CTLA4) gene, a member of the
immunoglobulin superfamily, is crucial for maintaining immune homeostasis and preventing …

Exfoliation syndrome is a leading cause of secondary glaucoma worldwide. Among the risk-
factors for exfoliation syndrome and exfoliation glaucoma that have been investigated, a …

MotifbreakR is a software tool that scans genetic variants against position weight matrices of
transcription factors (TF) to determine the potential for the disruption of TF binding at the site …

Genome-wide association studies have mapped over 90% of cardiovascular disease (CVD)-
associated variants within the non-coding genome. Non-coding variants in regulatory …

Linking DNA sequence to genomic function remains one of the grand challenges in genetics
and genomics. Here, we combine large-scale single-molecule transcriptome sequencing of …

Projects like the Human Genome Project, ENCODE, and RoadMap Epigenomics have
enabled genome-wide association studies (GWAS) to map associations between genetic …

Genetic and molecular factors associated with chronic lung and kidney disease
susceptibility, leading causes of domestic and global mortality, remain largely unexplained …

Le mutazioni non codificanti, aree del genoma che non vengono codificate in proteine, sono
la principale causa dei disturbi genetici, tra cui le malattie mendeliane. Gli effetti funzionali di …