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Understanding genetic variation: An integrated personal and population-based Egyptian genome reference

The power of the Human Genome Project was its universality: one genome to represent all humankind. The next challenge is […]

GTEx project sheds light on gene expression

Scientists from the Genotype-Tissue Expression (GTEx) project have completed a range of studies documenting how small changes in the DNA […]

Genetic modifiers impact long-term survival in sickle cell anaemia

A study published in Clinical and Translational Medicine, has assessed whole-exome sequencing data from sickle cell anaemia patients to identify […]

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 […]