Clinical Challenges: Sequencing in Metastatic TNBC
As new treatment options continue to emerge for triple-negative breast cancer (TNBC), sequencing of therapy promises to get ever more complicated. TNBC had been estimated to account for about 15% of all breast cancer diagnoses, but that proportion shrank with the new HER2-low designation, which accounts for approximately one-third of patients diagnosed with TNBC. An […]
Whole Genome Sequencing Boosts Diagnosis of Rare Disease in Infants
Whole genome sequencing captured almost twice as many genetic abnormalities that may be responsible for disease in infants, compared with a standard targeted test, researchers found. In the Genomic Medicine for Ill Neonates and Infants (GEMINI) study, the diagnostic yield of whole genome sequencing was 49%, compared with 27% with NewbornDx, a standard targeted gene […]
CDC: Two Distinct Monkeypox Strains Detected in U.S.
Gene sequencing efforts suggest that two different monkeypox variants are spreading in the U.S., raising the possibility that the virus has been circulating longer than experts initially thought, CDC officials said on Friday. Currently, there have been 20 monkeypox cases identified in 11 U.S. states, all in adults, Jennifer McQuiston, DVM, deputy director of CDC’s […]
New gene identified in arrhythmogenic cardiomyopathy
Researchers from the group of Eva van Rooij used advanced sequencing technology to better understand the heart disease arrhythmogenic cardiomyopathy, in which heart muscle tissue is replaced by fat cells. Using explanted human hearts, they found regions in which heart muscle was actively degenerated and identified a new gene, ZBTB11, that drives heart muscle cell […]
Whole-genome sequencing reveals new secrets about killer fungus
New research from the University of Exeter reports the largest ever whole-genome sequencing project for the potentially fatal yeast infection Candida glabrata from hospitals across Scotland. Candida glabrata is a type of yeast that can cause disease in humans. It most commonly affects the urinary tract, genitals, mouth, and the bloodstream. If it is not […]
Comprehensive RNA-Atlas: Researchers have built one of the most comprehensive catalogues of the human transcriptome ever
By cleverly combining complementary sequencing techniques, researchers have deepened our understanding of the function of known RNA molecules and discovered thousands of new RNAs. A better understanding of our transcriptome is essential to better understand disease processes and uncover novel genes that may serve as therapeutic targets or biomarkers. The article ‘The RNA Atlas expands […]