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Published on June 18, 2024
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…
Published on June 13, 2024
What’s the point of sequencing poorer patients with suspected rare diseases if they can’t get top notch care afterwards? That’s a question that has dogged health care for a while. Now iHope, a philanthropic initiative, has data that provides resounding support for such efforts. Even if people are not wealthy…
Published on June 13, 2024
Researchers at the NYU Langone Health and the NYU Grossman School of Medicine have developed a novel technique called HiDEF-seq (Hairpin Duplex Enhanced Fidelity Sequencing) that can detect the earliest molecular changes in DNA that precede genetic mutations. The new method, detailed in a study published in Nature, could significantly…
Published on June 11, 2024
A potential landmark genetic association study for the neurodegenerative disorder Parkinson’s has uncovered a new risk variant. The team, which included scientists from the University Medical Center Utrecht, Indiana University School of Medicine, and UMass Chan Medical School, combined whole genome and exome sequencing data from 2184 familial Parkinson’s disease…
Published on June 6, 2024
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…
Published on June 6, 2024
In a study published in Nature Medicine, researchers used clinical data from a large patient cohort to show that children with high-risk cancers had better response rates and survival outcomes when treated with sequencing-guided treatment that used comprehensive molecular profiling. The PRISM trial in Australia used whole-genome, transcriptomic, and DNA…
Published on May 27, 2024
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…
Published on April 23, 2024
A big challenge with the SARS-CoV-2 virus, which causes COVID, is that it regularly generates variants. Now, a new targeted RNA consensus sequencing method (tARC-seq) can accurately determine SARS-CoV-2 mutation frequency and types, both in cell culture and clinical samples, according to researchers at Baylor College of Medicine and collaborating…
Published on April 1, 2024
Biologists of all sorts seek the answer to this general question: What happens and where? The complexity of the answer and even the ability to address the question depends intimately on the problem being studied. A chain of technological advances over centuries, however, continues to give biologists tools to explore…
Published on December 21, 2023
By Nava Whiteford The first thing I imagine when asked to write about the future of sequencing is a young researcher gliding to her lab bench on a hoverboard, where she presses a single bright button labeled “Sequlite 10000.” A blur of motion and computer graphics engulf the lab. Ten…
Published on September 28, 2023
COVID-19 is still a public health challenge. New variants are emerging and hospitalizations are rising for the first time in several months. As a result, countries are scrambling to prepare in case the pandemic roars back. To support global monitoring and control, the World Health Organization (WHO) has published a…
Published on September 25, 2023
Researchers at Imperial College London (ICL) working with commercial partner Oxford Nanopore Technologies have developed a method for DNA barcoding that allow nanopore sequencing to identify dozens of biomarkers in one test. The new method, reported today in Nature Nanotechnology, shows promise to identify specific biomarkers of diseases such as…
Published on August 24, 2023
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…
Published on August 16, 2023
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…
Published on August 9, 2023
Targeted cancer therapies can only be used in patients whose type of cancer can be identified, according to FDA rules. That leaves the 3% to 5% of cancer patients diagnosed with cancer of unknown primary (CUP) with few options and poor outcomes. Researchers at the Dana-Farber Cancer Institute developed an…