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Inside the Lab Bioinformatics, COVID-19, Genetics and epigenetics, Precision medicine

Quick Hits

At a Glance
The results are now in from the Association for Molecular Pathology’s SARS-CoV-2 diagnostic testing survey (1). New recommendations include ensuring that regulatory requirements are neither duplicative nor burdensome and supporting the clinical lab workforce as essential to the pandemic response.

Matters of the Heart
A single-cell atlas of the human heart has been published, documenting the complex nature of the healthy heart and the different cell types and genes expressed (2). It will provide a healthy reference heart for future research into targeted treatments for heart disease.

A First for mFMD
Researchers have found a recurring genetic variant associated with multifocal fibromuscular dysplasia (mFMD) (3). The COL5A1 variant c. 1540G>A – also associated with classical Ehlers Danlos Syndrome – meets the criteria for pathogenicity, a first for mFMD.

Breaking Down Barriers
Not an expert in bioinformatics or programming languages? Not to worry – DrBioRight has got you covered (4). The new artificial intelligence-driven program enables biomedical researchers to analyze large datasets without the need for specialized expertise through its user-friendly, natural-language interface.

Pipeline Predictor
Scientists have developed a computational pipeline to predict the treatment responses of different tumors based on the co-occurrence of alterations in cancer driver genes (5). In testing, the model was able to predict therapy outcomes in 12 of 14 cases – higher than that of approved biomarkers.

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  1. Association for Molecular Pathology (2020). Available at: bit.ly/3oaPeHu.
  2. M Litviňuková et al., Nature, [Online ahead of print] (2020). PMID: 32971526.
  3. J Richer et al., Arterioscler Thromb Vasc Biol, [Online ahead of print] (2020). PMID: 32938213.
  4. J Li et al., Cancer Cell, [Online ahead of print] (2020). PMID: 32976776.
  5. L Mateo et al., Genome Med, 12, 1 (2020). PMID: 32907621.

About the Author

Olivia Gaskill

During my undergraduate degree in psychology and Master’s in neuroimaging for clinical and cognitive neuroscience, I realized the tasks my classmates found tedious – writing essays, editing, proofreading – were the ones that gave me the greatest satisfaction. I quickly gathered that rambling on about science in the bar wasn’t exactly riveting for my non-scientist friends, so my thoughts turned to a career in science writing. At Texere, I get to craft science into stories, interact with international experts, and engage with readers who love science just as much as I do.

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