The majority of human genomes have a variety of introns that must be removed one a gene has been transcribed from DNA to RNA, as they do not encode the information to translate RNA into proteins. As ...

RNA-seq experiments generate reads derived not only from mature RNA transcripts but also from pre-mRNA. Here we present a computational approach called exon-intron split analysis (EISA) that measures ...

To the Editor: Pellerin et al. (Jan. 12 issue)1 reported a dominant FGF14 GAA repeat expansion in persons with late-onset cerebellar ataxia. They also identified persons who were homozygous or comp ...

Vitamin D status and survival of metastatic colorectal cancer patients: Results from CALGB/SWOG 80405 (Alliance).

Retinitis pigmentosa (RP) is an inherited retinal dystrophy that causes loss of vision. Pathogenic variants in proteins involved in RNA splicing are the second most common cause of autosomal dominant ...