Mobile Menu

Search Results

Search results for: Sequencing

Novel statistical test for interpreting pathogenicity of rare variants

Researchers have developed a novel statistical test to interpret the pathogenicity of rare variants and accurately distinguish between benign and […]

“The one where an episode is stored on DNA”

Twist Bioscience last month announced that for the first time, an episode of a Netflix Original Series has been stored […]

Women in genetics

Can you name a female scientist? For many people reading this, this may seem like a very easy question to […]

Novel circRNA identified as a potential biomarker for pancreatic cancer

A recent study, published in the Journal of Human Genetics, has analysed and identified a novel circRNA in pancreatic cancer […]

Gut microbiota predicts Crohn’s disease state

Researchers have revealed the potential usage of cytometric fingerprints of gut microbiota as a diagnostic tool to predict Crohn’s disease […]

Oncogenic mutational processes differ between sexes

A recent pan-cancer analysis has uncovered sex differences in oncogenic mutational processes.  Cancer sex disparities Disparities between sexes have been […]

Elite controller: Third patient to recover from HIV-1

Researchers have reported that a third patient, referred to as an elite controller, has recovered from HIV-1 infection. Furthermore, this […]

Human Genome Project: Triumph or failure?

It has been 20 years since the first draft of the human genome was unveiled. The ambitious project to sequence […]

Underdiagnosis of monogenic heart and vascular diseases

Through performing whole-exome sequencing (WES), researchers have found that diagnoses for monogenic cardiovascular diseases (MCVDs) may have previously been missed. […]

Precision Oncology ONLINE: From preanalytical considerations to digital insights

Cancer is the world’s second biggest killer. In 2018, cancer claimed the lives of an estimated 9.6 million people. Needless […]