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Last Posted: Nov-28-2021 12:28:55

3 Questions We Must Answer About the Omicron Variant
A Jha, NY Times, November 27, 2021

How worrisome is Omicron? There are three key questions that help scientists understand how consequential any variant might be. The first question is whether the variant is more transmissible than the current, prevalent Delta strain? Second, does it cause more severe disease? And third, will it render our immune defenses — from vaccines and prior infections — less effective (a phenomenon known as immune escape)?

Tracking Omicron and Other Coronavirus Variants
J Corum et al, NY Times, November 28, 2021

Omicron carries about 50 mutations not seen in combination before, including more than 30 mutations on the spike protein that the coronavirus uses to attach to human cells.Omicron’s spike protein has several mutations that are found in other variants of concern and that are thought to make the virus more infectious, including D614G, N501Y and K417N.

Clinical utility of polygenic risk scores for coronary artery disease.
Klarin Derek et al. Nature reviews. Cardiology 2021 11

In this Review, we describe technical and downstream considerations for the derivation and validation of polygenic risk scores and current evidence for their efficacy and safety. We discuss the implementation of these scores in clinical medicine for uses including risk prediction and screening algorithms for coronary artery disease, prioritization of patient subgroups that are likely to derive benefit from treatment, and efficient prospective clinical trial designs.

Genomics elucidates both common and rare disease aetiology
A McNeil, EJHG, November 26, 2021

We close the year with a range of interesting and informative papers. Birth defects (congenital anomalies) affect many thousands of neonates every year; yet the aetiology of many of them remains unresolved. A new paper reviews what is known about the genomic basis of congenital diaphragmatic hernia (CDH). Around 10% of cases of CDH are associated with a copy number variant. Implicated pathways include NRF2 and vitamin A homeostasis. In contrast to common malformations, the genetic basis of rare disease continues to be elucidated with more and more causal genes identified annually

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