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Bionano Genomics Inversion Detection Algorithms

Bionano Genomics has released updated algorithms, analysis tools, and visualization software for the genome-wide detection of inversions. Previous releases have focused on the automated calling of large insertions, deletions, and translocations. Bionano said its genome mapping platform Saphyr detects 90 percent of heterozygous insertions and deletions larger than 1 kilobase pairs and 98 percent of all translocations. The new release focuses on mapping the order and orientation of the genome by greatly improving the ability to identify inversions of 30 kbp up to megabases in size. The new algorithms have 98 percent sensitivity to pick up inversions larger than 50 kbp throughout the genome. All of Bionano's structural variants are reported in dbVar-compliant VCF format.

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.