Institute of Biomedical & Clinical Science: Recent submissions
Now showing items 51-55 of 1236
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SavvyCNV: Genome-wide CNV calling from off-target reads
(Public Library of Science (PLoS), 16 March 2022)Identifying copy number variants (CNVs) can provide diagnoses to patients and provide important biological insights into human health and disease. Current exome and targeted sequencing approaches cannot detect clinically ... -
Estimating cetacean population trends from static acoustic monitoring data using Paired Year Ratio Assessment (PYRA)
(Public Library of Science (PLoS), 17 March 2022)The cetacean conservationist is often faced with evaluating population trends from abundance data that are either sparse or recorded at different times in different years. The presence of diel or seasonal patterns in the ... -
Mobile Health Biometrics to Enhance Exercise and Physical Activity Adherence in Type 2 Diabetes (MOTIVATE-T2D): protocol for a feasibility randomised controlled trial
(BMJ Publishing Group, 26 November 2021)INTRODUCTION: Exercise and physical activity (PA) are fundamental to the treatment of type 2 diabetes. Current exercise and PA strategies for newly diagnosed individuals with type 2 diabetes are either clinically effective ... -
Human satellite III long noncoding RNA imparts survival benefits to cancer cells
(Wiley / International Federation for Cell Biology, 10 January 2022)Long noncoding RNAs (lncRNAs) are heterogeneous group of transcripts that lack coding potential and have essential roles in gene regulations. Recent days have seen an increasing association of noncoding RNAs with human ... -
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
(Public Library of Science (PLoS), 29 August 2018)We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal recessive retinitis pigmentosa ...