mutations

Through a combination of basic science research and clinical trials, researchers uncover innovative approaches for targeted cancer treatment. 

Sequencing circulating tumor DNA (ctDNA) within liquid biopsies permits tumor identification and tracking. 

Synonymous mutations have long been ignored in cancer studies since they don’t affect the amino acid sequences of proteins. But research increasingly reveals that they can have disease-driving effects.

Researchers identified mutations in genes that may be involved in fat regulation, fur growth, and morphology.

Although epigenetic changes were long thought to largely act on the genome, rather than as part of it, research is now showing that these patterns can, directly or indirectly, change the genetic code.

Evidence is mounting that epigenetic marks on DNA can influence future generations in a variety of ways. But how such phenomena might affect large-scale evolutionary processes is hotly debated.

Most differences in gene expression among cells within a tumor are likely due to environment or noise, a study suggests. 

A team proposes that the addition of a small accessory subunit to the carbon-fixing enzyme was key to improving its catalytic properties and specificity to CO₂.

Discover the importance of automation and software solutions for standardizing NGS-based clinical diagnostics.

Off the western Australian coast, in Shark Bay, a field of seagrass big enough to cover Washington, DC, has flourished for more than four millennia, a new study finds.

Analyzing the whole genome sequences of more than 18,000 tumors, researchers catalog nearly 60 new patterns of mutations that could inform cancer treatment.

A first-of-its-kind gene therapy dramatically reduced misfolded protein levels in some clinical trial participants for up to six months and reduced levels in all participants for up to a year.

The genes are involved in pacing the development of inhibitory and excitatory neurons. An imbalance in these two types of signaling is thought to play a role in autism.

An expert panel will discuss how single cell sequencing enhances throughput in CRISPR gene editing applications.

Guidelines for maintaining human cells grown ex vivo

He famously identified the genetic mutation that causes the condition in 1991.

Researchers consult a continuously curated database to determine a variant’s clinical significance.

The SARS-CoV-2 variant was first detected in January, but its rising prevalence and potential resistance to vaccines has garnered it special attention from the World Health Organization.

Genetic, transcriptomic, and epigenetic data reveal molecular mechanisms tying these disorders to each other and to immune disfunction.