The ENCODE4 long-read RNA-seq collection reveals distinct classes of transcript structure diversity.

The majority of mammalian genes encode multiple transcript isoforms that result from differential promoter use, changes in exonic splicing, and alternative 3' end choice. Detecting and quantifying transcript isoforms across tissues, cell types, and species has been extremely challenging because transcripts are much longer than the short reads normally used for RNA-seq. By contrast, long-read RNA-seq (LR-RNA-seq) gives the complete structure of most transcripts.

RNAget: an API to securely retrieve RNA quantifications.

Summary: Large-scale sharing of genomic quantification data requires standardized access interfaces. In this Global Alliance for Genomics and Health project, we developed RNAget, an API for secure access to genomic quantification data in matrix form. RNAget provides for slicing matrices to extract desired subsets of data and is applicable to all expression matrix-format data, including RNA sequencing and microarrays.

GA4GH: International policies and standards for data sharing across genomic research and healthcare.

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution.

Hyperpigmentation of the legs.

Was a drug or a comorbidity to blame for this patient's hyperpigmentation?

Features of the built environment related to physical activity friendliness and children's obesity and other risk factors.

Objectives: We investigated the relationships among environmental features of physical activity friendliness, socioeconomic indicators, and prevalence of obesity (BMI status), central adiposity (waist circumference, waist-height ratio), and hypertension.

Design And Sample: The design was cross-sectional; the study was correlational. The sample was 911 kindergarteners through sixth graders from three schools in an urban school district residing in 13 designated neighborhoods.