Publications by authors named "Taksina Newington"
Article Synopsis
- Brugada syndrome (BrS) is a hereditary cardiac disorder linked to sudden death in young adults, particularly prevalent in Southeast Asia, with certain genetic variants associated with the condition.
- Researchers conducted genome sequencing on individuals with BrS and matched controls in Thailand to find rare noncoding variants that are more common in BrS patients.
- A specific rare variant was identified that disrupts a transcription factor binding site, causing reduced gene expression and reduced sodium current in heart cells, contributing to the high prevalence of BrS in the region and identifying at-risk individuals.
The collection of dried blood spots (DBS) facilitates newborn screening for a variety of rare, but very serious conditions in healthcare systems around the world. Sub-punches of varying sizes (1.5-6 mm) can be taken from DBS specimens to use as inputs for a range of biochemical assays.
View Article and Find Full Text PDFDNA sequence information underpins genetic research, enabling discoveries of important biological or medical benefit. Sequencing projects have traditionally used long (400-800 base pair) reads, but the existence of reference sequences for the human and many other genomes makes it possible to develop new, fast approaches to re-sequencing, whereby shorter reads are compared to a reference to identify intraspecies genetic variation. Here we report an approach that generates several billion bases of accurate nucleotide sequence per experiment at low cost.
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