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A modern Egyptian: the first comprehensive Egyptian reference genome

The true value of genomics can only be unravelled with true population-scale sequencing. Understanding genomic variation across populations will help […]

African genomics needed for genetic medicine

As part of the 20th anniversary of Nature Reviews Genetics, Professor Ambroise Wonkam from the University of Cape Town has […]

The human endometrium at a single-cell level

Researchers have characterised the transcriptomic transformation of the human endometrium during the menstrual cycle at single-cell resolution.  Human endometrium During […]

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 […]