Two leading groups have developed new techniques to study telomeres using long-read sequencing that could be major advances for the study of these key chromosome parts and their effects on aging, cancer, and other diseases. Their studies are already shedding light on these. One technique was developed by researchers at…

A multinational research collaboration led by researchers at the University of Kentucky Sanders-Brown Center on Aging have used long-read RNA sequencing to identify 53 new RNA isoforms in medically relevant genes related to Alzheimer’s disease (AD) and other neurodegenerative diseases. Their study, published in Nature Biotechnology, is part of an…

Researchers used long-read sequencing and identified previously unknown genetic variants that affect the gene associated with the kidney disease Bartter syndrome. The findings are published in the journal Genome Medicine. “Long-read sequencing is increasingly used to uncover structural variants in the human genome, both functionally neutral and deleterious,” wrote the…

The Hospital for Sick Children (SickKids) in Toronto has announced that it will employ PacBio’s HiFi long-read, whole-genome sequencing (WGS) technology as a diagnostic tool to identify genetic variants that may be associated with undiagnosed medical and development conditions. The collaboration will use samples that have been previously subjected to…

Pacific Biosciences and Rady Children’s Institute for Genomic Medicine (RCIGM) are teaming up on a study focusing on long-read whole genome sequencing of rare disease cases.  The project aims to provide genetic answers for patients living with undiagnosed diseases where short-read whole genome or exome sequencing (SRS) failed. Early results…

Eric Dishman, Director of the NIH’s All of Us Research Program The NIH’s All of Us Research Program has chosen the HudsonAlpha Institute for Biotechnology to assess the use of DNA sequencing technologies for diagnosis and treatment of common and rare diseases, under a $7 million…

Illumina says its planned approximately $1.2 billion acquisition of Pacific Biosciences, announced yesterday, will broaden clinicians’ access to the companies’ complementary technologies, especially PacBio’s long-read sequencing. The companies said their deal will create a sequencing powerhouse that will combine Illumina’s short-read technologies with PacBio’s long-read sequencing capabilities more suitable for…

Review written by Wilfried Haerty–Earlham Institute, from London Calling 2019   London Calling is an annual conference hosted by Oxford Nanopore Technologies, dedicated to sharing the latest nanopore sequencing research from scientists around the world. Oxford Nanopore offers scalable DNA/RNA sequencing devices from portable to benchtop. Our goal is to…

In one of the largest rare disease genome sequencing projects of its kind, Ambry Genetics and PacBio will work with the University of California, Irvine (UCI) and the GREGoR Consortium (Genomics Research to Elucidate the Genetics of Rare diseases) to support the Pediatric Mendelian Genomics Research Center (PMGRC) program on…

A new technology for targeted sequencing of full-length RNA has been developed by researchers at the Children’s Hospital of Philadelphia (CHOP). They report their TEQUILA-seq platform is highly cost-effective compared to already commercially available solutions and can be adapted for different research and clinical purposes. The technique was described in a…

Sequencing company PacBio, exome and genome testing and interpretation company GeneDx, and the University of Washington announced today a collaboration to assess the use of long-read whole-genome sequencing (WGS) to increase diagnostic rates in pediatric patients with genetic conditions. Under the collaboration, GeneDx will perform sequencing and analysis of samples…

Genetic sequencing has changed out of all recognition since the Human Genome Project was officially completed in 2003. The technology is faster, cheaper and more accurate, but for a long time the market has been dominated by a few large companies. This is now starting to change and these five…

Sequencing company PacBio, and synthetic DNA company Twist Bioscience announced today the launch of a line of high-throughput long-read gene panels. The initial offering of panels, sold under the Twist Alliance name, are designed to capture target regions of the genome, and also offer customers the ability to custom design…

Clinical next-generation sequencing (NGS) can mean different things to different people, so when trying to understand the current landscape of clinical NGS, it is important to appreciate that it covers a wide range of applications—from single-gene testing to whole-genome sequencing. Also known as high-throughput sequencing—owing to its more rapid resolution…

Sequencing tools provider PacBio will collaborate with genome analysis company iLAC and Robotic Biology Institute (RBI) will apply robotic technologies to co-develop automated, end-to-end workflows on the company’s Sequel II and Sequel IIe HiFi sequencing platforms. “As our footprint around the world grows, collaborations like this help us support the…