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Uncovering Genomic Evidence for Reinfection with SARS-CoV-2: A Case Study

COVID-19 has been the dominating topic of our lives for the past year, with currently over 114 million cases, 65 […]

Enabling Genomic Medicine: Analysis at Scale

Genomic medicine has opened the possibility to transform the health and wellness of individuals around the world with life-changing diagnoses […]

Round-up: COVID-19 March 2021 (Part One)

Another month, another round-up of the latest news and research surrounding COVID-19 from the last fortnight. Statistics At the time […]

Large study reveals 127 glaucoma genes

In the largest genome-wide association study of glaucoma, an international consortium of researchers has identified 44 new gene loci and […]

64 assembled haplotypes

Researchers have assembled 64 haplotypes from 32 diverse human genomes in order to serve as a new reference for genetic […]

A well camouflaged zebra

For my undergraduate research project, I studied a rare neurological disease known as Landau-Kleffner Syndrome. It was then that I […]

The Rarest of the Rare

In Europe, a rare disease is defined rare when it affects fewer than 1 in 2,000 people. However, this definition […]

WES uncovers mutations for rare paediatric diseases

Using whole-exome sequencing (WES), researchers have identified underlying variants in children with rare genetic paediatric diseases. Rare genetic paediatric diseases […]

Round-up: COVID-19 February 2021 (Part Two)

Your latest round-up of the most recent news and research surrounding COVID-19 from the last fortnight. Statistics At the time of writing, […]

20 Years since the Human Genome Project: What comes next?

The Human Genome Project Published 20 years ago, the first drafts of the human genome opened the doors to a […]