A method for parallel sequencing of single-cell extrachromosomal circular DNA (ecDNA) and full-length mRNA transcriptomes has enabled new insights into the roles of ecDNA in cancer progression, researchers from Charité hospital and the Max Delbrück Center for Molecular Medicine reported in Nature Genetics on May 8, 2023. Circular DNAs are present in at least a third of cancer cells, and their presence correlates with poor prognosis in many cases. They can carry driver genes that have separated themselves from their chromosome of origin, and some research suggests that they serve as “reserve copies” of driver genes. Boundless Bio Inc. is in phase I trials targeting ecDNAs.
Fabric Genomics Inc.’s Gem artificial intelligence algorithm plus whole genome and whole exome data detected more than 90% of disease-causing variants in infants with rare diseases, a study in Genome Medicine demonstrated. The full process from blood sample to shortlist of causative variants and likely diseases takes just a matter of hours and the time to interpret whole genomes is condensed to about 15 minutes.
Data on the prevalence of diabetes in the U.S. show that non-Hispanic white people are least likely to suffer from the disease. Yet to date most genetic studies of the glycemic traits that are used to diagnose and monitor type 2 diabetes and cardiometabolic health have focused on individuals of European ancestry.
Researchers at Yale University have described what they have called a “data sanitization tool,” enabling them to strip personal identifiers out of functional genomics data while preserving their usefulness for research.
LONDON – A vast new body of genomics research has identified thousands of rare genetic variants that are predicted to cause loss of function in protein coding genes, providing novel in vivo models of human gene inactivation.
LONDON – The U.K. is launching a £28 million (US$34.5 million) project to sequence the whole genome of every COVID-19 patient in the country treated in intensive care, with the aim of uncovering host genetic factors that lead some people to be more severely affected by the infection. The study will involve up to 20,000 people currently or previously treated in one of 170 intensive care units (ICUs), whose genomes will be compared to 15,000 people with a confirmed infection who had mild or moderate symptoms.
LONDON – The extent to which existing DNA databases fail to reflect human genetic diversity is laid bare in the most geographically comprehensive sequencing initiative to date. The study applied the latest sequencing techniques to 929 genomes from 54 diverse populations around the world.
Beyond every binary is a more complex reality. And so it is with driver and passenger mutations. The separation of tumor mutations into drivers and passengers underpins much progress in the development of targeted therapies.
LONDON – The genomes of 38 different tumor types and the 47 million mutations that fostered their growth are revealed in unprecedented detail in 23 studies published in Nature and other journals on Feb. 6, 2020.
SAN FRANCISCO – Major genetic research efforts designed to encompass millions of people globally have been setting up their infrastructure in recent years to serve both researchers and patients. This work is being done by major national initiatives, such as All of Us in the U.S. and Genomics England in the U.K., as well as by health care systems such as Intermountain and Kaiser.