Eukaryotic genomes contain many nongenic elements that function in gene regulation, chromosome organization, recombination, repair or replication, and mutation of those elements can affect genome function and cause disease. While numerous epigenomic studies provide high coverage of gene regulatory regions, those data are not usually exposed in traditional genome annotation, and can be difficult to access and interpret without field-specific expertise. The National Center for Biotechnology Information (NCBI) therefore provides RefSeq Functional Elements (RefSeqFEs), which represent experimentally validated human and mouse nongenic elements derived from the literature. The curated dataset is comprised of richly annotated sequence records, descriptive records in the NCBI Gene database, reference genome feature annotation, and activity-based interactions between nongenic regions, target genes and each other. The dataset provides succinct functional details and transparent experimental evidence, leverages data from multiple experimental sources, is readily accessible and adaptable, and utilizes a flexible data model. The data have multiple uses for basic functional discovery, bioinformatics studies, genetic variant interpretation, as known positive controls for epigenomic data evaluation, and as reference standards for functional interactions. Comparisons to other gene regulatory datasets show that the RefSeqFE dataset includes a wider range of feature types representing more areas of biology, but it is comparatively smaller and subject to data selection biases. RefSeqFEs thus provide an alternative and complementary resource for experimentally assayed functional elements, with future dataset growth expected.
Predicting Frailty and Geriatric Interventions in Older Cancer Patients: Performance of Two Screening Tools for Seven Frailty Definitions—ELCAPA Cohort
