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 ...

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 ...

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).

It can take approximately seven years to diagnose a patient with a rare disease. With NEW CentoXome®, this doesn’t have to be the case. In the attached case study, NEW CentoXome, an enhanced Whole ...