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Thermo Fisher Scientific Ion Torrent CarrierSeq ECS Kit

Thermo Fisher Scientific has introduced the Ion Torrent CarrierSeq ECS Kit for expanded carrier screening. The AmpliSeq-based panel, which runs on the Ion GeneStudio S5 sequencer, covers 420 genes, including difficult-to-sequence ones like SMN1 and SMN2 for spinal muscular atrophy, GBA for Gaucher disease, CYP21A2 for 21-hydroxylase deficient congenital adrenal hyperplasia, and HBA1 and HBA2 for alpha thalassemia. It detects more than 28,000 non-benign ClinVar variants, including single nucleotide variants and copy number variants, and comes with customizable Carrier Reporter software.

The Scan

Missed Early Cases

A retrospective analysis of blood samples suggests early SARS-CoV-2 infections may have been missed in the US, the New York Times reports.

Limited Journal Editor Diversity

A survey finds low diversity among scientific and medical journal editors, according to The Scientist.

How Much of a Threat?

Science writes that need for a provision aimed at shoring up genomic data security within a new US bill is being questioned.

PNAS Papers on Historic Helicobacter Spread, Brain Development, C. difficile RNAs

In PNAS this week: Helicobacter genetic diversity gives insight into human migrations, gene expression patterns of brain development, and more.