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UrduDravet syndrome is a rare, severe epilepsy caused by certain changes in the SCN1A gene. But people with Dravet have a wide range of clinical characteristics that cannot be fully explained by these changes. What else is going on?
Tag: genome analysis
Nematode resurrected from Siberian permafrost laid dormant for 46,000 years
A soil nematode reanimated from Siberian permafrost had laid dormant for approximately 46,000 years, according to a study.
Brain-Belly Connection: Gut Health May Influence Likelihood of Developing Alzheimer’s
UNLV study pinpoints 10 bacterial groups associated with Alzheimer’s disease, provides new insights into the relationship between gut makeup and dementia.
Van Andel Institute, Washington University School of Medicine in St. Louis to lead genome center under $140M NIH initiative
Van Andel Institute’s Hui Shen, Ph.D., and Washington University School of Medicine in St. Louis’s Ting Wang, Ph.D., will co-lead a collaborative project supported by the Somatic Mosaicism across Human Tissues (SMaHT) Network, a new $140 million National Institutes of Health-led effort to better understand the genetic differences between individual cells and tissues in the body.
Discovering Unique Microbes Made Easy with DOE Systems Biology Knowledgebase (KBase)
The Department of Energy Systems Biology Knowledgebase (KBase) recently released a suite of features and a protocol for performing sophisticated microbiome analysis that can accelerate research in microbial ecology. KBase helps researchers understand which organisms live in an environment and how they interact. The tool’s new features reduce the time required to process sequencing data and characterize genomes and help scientists collaboratively analyze genomics data and build research communities.
Researchers Discover Mechanisms of Drug-Resistant Fungal Infection in Transplant Patient
Experts Encourage Rapid Genomic Screenings and Development of New Therapeutics for Drug-Resistant Pathogens to Address Emerging Global Health Concern
Researchers mine data and connect the dots about processes driving neuroblastoma
Researchers have used insight from a comprehensive genomic analysis of neuroblastoma to learn about the process driving one of the most common childhood solid tumors.
Ancient DNA paints genetic portrait of Andes civilisations
An international team of researchers including the University of Adelaide, has completed the first large-scale study of DNA belonging to ancient humans of the central Andes in South America and found early genetic differences between groups of nearby regions, and surprising genetic continuity over thousands of years.
In the study, published in the journal Cell, researchers analysed the DNA of 89 ancient humans who lived in the central Andes between 500 and 9,000 years ago, and compared it with the genetic diversity of present day occupants, to shed light on the genetic changes over time.
Coronavirus by the Numbers
The Weizmann Institute’s Prof. Ron Milo and colleagues at Caltech and Berkeley used his biomass-analyzing techniques to sort the mass of coronavirus data, with interesting results. For example, they found that the coronavirus mutation accumulation rate is relatively slow, which is good news for vaccines