Publications by authors named "S S Donaldson"
Ensembl (www.ensembl.org) is an open platform integrating publicly available genomics data across the tree of life with a focus on eukaryotic species related to human health, agriculture and biodiversity.
View Article and Find Full Text PDFBackground: Elexacaftor/tezacaftor/ivacaftor (ETI) is a highly effective therapy that improves lung disease in people with cystic fibrosis (pwCF), but its effect on glucose tolerance and insulin secretion is unclear.
Methods: PROMISE is a multicenter prospective, observational study of ETI in pwCF ≥12 years and at least one F508del allele. The PROMISE Endocrine sub-study (PROMISE-ENDO) enrolled participants at 10 CF Centers where hemoglobin A1c (HbA1c) was collected and 3-hour oral glucose tolerance tests (OGTT) conducted to examine glucose tolerance, glucose excursions, insulin secretory rates (deconvolution of C-peptide) and sensitivity (oral minimal model) prior to ETI and 12-18 months (mos) and 24-30 mos following ETI initiation.
Lost Mary is a popular e-cigarette brand among youth in the United States. This study aimed to analyze Lost Mary's branded social media activity and assess whether marketing efforts may have contributed to its youth appeal. We conducted a content analysis of 53 Lost Mary posts published on social media platforms from 2022 to 2023.
View Article and Find Full Text PDFGENCODE produces comprehensive reference gene annotation for human and mouse. Entering its twentieth year, the project remains highly active as new technologies and methodologies allow us to catalog the genome at ever-increasing granularity. In particular, long-read transcriptome sequencing enables us to identify large numbers of missing transcripts and to substantially improve existing models, and our long non-coding RNA catalogs have undergone a dramatic expansion and reconfiguration as a result.
View Article and Find Full Text PDFArticle Synopsis
- - Accurate gene annotations are essential for interpreting how genomes function, and the GENCODE consortium has spent twenty years creating reference annotations for human and mouse genomes, serving as a vital resource for researchers globally.
- - Previous annotations of long non-coding RNAs (lncRNAs) were incomplete and poorly organized, hindering research, prompting GENCODE to launch a comprehensive effort that resulted in adding nearly 18,000 novel human genes and over 22,000 novel mouse genes, significantly increasing the catalog of transcripts.
- - The new annotations not only show evolutionary patterns and link to genetic variants associated with traits but also improve understanding of previously unclear genomic functions, greatly advancing research into both human and mouse genetic diseases.