Leading open-source tools, GATK and DRAGEN, are being combined to create a cutting-edge software suite for methods including small variant (SNV) and large variant (CNV/SV) detection, according to Illumina and the Broad Institute of MIT and Harvard. The co-developed secondary analysis algorithms and software will provide a standardized means of…

The British sequencing company famous for producing ultra-long reads, Oxford Nanopore Technologies announced today that have entered into a non-exclusive license agreement with Caribou Biosciences for CRISPR-Cas9 enrichment for nanopore sequencing. Caribou has granted Oxford Nanopore a worldwide, non-exclusive license under foundational CRISPR-Cas9 intellectual property controlled by Caribou for nanopore…

Freenome’s multiomics platform, designed to improve early cancer detection from a routine blood draw, will be used by ADC Therapeutics to develop biomarkers for ADC’s pivotal-phase lymphoma drug candidate ADCT-402 (loncastuximab tesirine), through a collaboration whose value was not disclosed. The Freenome platform is designed to identify tumor- and immune-derived…

It’s an aspirational goal: develop a simple blood test that can detect cancer cells in an asymptomatic patient, locate the tissue of origin, and give that person an early diagnosis when treatment is more likely to be successful. The ideal test would be able to do all that and do…

Guardant Health has agreed to acquire Bellwether Bio for an undisclosed price, in a deal designed to further advance the buyer’s pipeline of early-detection cancer diagnostics. Bellwether Bio is a privately-held Seattle startup focused on using the epigenomic content of cell-free DNA (cfDNA) to develop diagnostics for cancer and other…

Novel methods for early detection are critical for improving cancer treatments and outcomes. This is especially true for lung cancer, the most common cause of cancer death worldwide, with over 1.5 million deaths per year. Now, the world’s first genetic sequencing of precancerous lung lesions has allowed researchers for the first…

A scientist at Johns Hopkins has published a paper (“Methylation Biomarker Panel Performance in EsophaCap Cytology Samples for Diagnosing Barrett’s Esophagus: A Prospective Validation Study”) in Clinical Cancer Research that he says could finally result in simple and inexpensive screening for esophageal cancer. “Barrett’s esophagus (BE) is the only known…

Do you have cancer or not? This seemingly simple question could be answered by a simple test that looks for just one DNA signature, an epigenetic pattern that emerges in every cancer. Even better, the test works on circulating free DNA, molecular fragments that drift through easily obtained body fluids.…

A team of researchers from Duke University School Medical Center is taking a new approach to developing a treatment for Parkinson’s Disease (PD), and it could have implications for developing therapies for other diseases. For the first time, reserachers have successfully modified the expression regulation of the gene that encodes…

We all stand the risk of accumulating scars throughout our lifetimes, but curiously, in old age, the likelihood that a wound will leave a thick, ugly scar is much reduced. How older skin is advantaged has been unclear, even though dermatologists and plastic surgeons have consistently observed that older people’s…

Using data from humans and worms, researchers at the European Bioinformatics Institute (EMBL-EBI), the University of Dundee and the Wellcome Sanger Institute have generated new insights into the mutational causes of cancer. Previous research has shown that one of the first DNA repair pathways associated with an increased risk of…

Metabolon said today it will perform large-scale metabolomic profiling on biological samples from U.S. veterans as part of the Million Veteran Program, through the company’s partnership with genomics services provider AKESOgen. The Million Veteran Program (MVP), a research effort launched by the U.S. Department of Veterans Affairs in 2011, is…

For the first time, researchers using a nanopore sequencer have assembled a human genome using ultra long reads. This achievement, described today in Nature Biotechnology, marks a milestone for the technology, as well as a considerable step toward eventually completing the human genome. “The ability to do this is significant,”…

Research from an international team of investigators has found that independent of the identical genes shared by monozygotic (MZ) twins, they also share epigenetic similarity that influences their characteristics. The study, “Epigenetic Supersimilarity of Monozygotic Twin Pairs”, published in Genome Biology—proposes a mechanism to explain the extra level of similarity…

Global Gene said it will partner with The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC-James) to study rare cancers in South Asian and Indian populations. Global Gene, a genomics data platform and applications developer, said it will offer…