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structural variant analysis

The firm reported preliminary revenues between $3.8 million and $4.2 million for the fourth quarter of 2020, up from $2.8 million in Q4 of 2019.

A recently published preprint study demonstrated the superiority of the company's optical mapping technology for detecting large structural variations in de novo sequencing data.

The methods, both published in Nature Biotechnology this week, result in completely phased haplotypes, without the need for sequencing parental samples.

In Genome Research this week: unrecognized spread of SARS-CoV-2 in New York last February, assay of cell line responses to drug treatment, and more.

The researchers said that the virus' genome can be classified in six major types, which are characterized by 14 signature single nucleotide variations.

Researchers found complex "rigma," "pyrgo," and "tyfona" structural variant classes by applying their new algorithm to thousands of cancer genomes.

The de novo directional genomic hybridization technology is designed to enable the measurement of simple, complex, and heterogenous structural variants.

In Genome Biology this week: analysis of tuberculosis samples from the 1600s, tool to detect variants affecting RNA-binding protein activity, and more.

The tool, developed by Children's Hospital of Philadelphia, was able to establish distinct mutational patterns in five major pediatric cancers.

Because of coronavirus-related shutdowns of customer labs, the San Diego-based firm saw decreased revenues in all geographic regions, especially outside the US.


The Wall Street Journal reports on gaps in COVID-19 testing affecting less affluent urban areas and rural locations.

According to NBC News, new SARS-CoV-2 variants are making it harder for researchers to model the course of the pandemic.

The New York Times reports that experts say President Joe Biden's goal of vaccinating 1 million people a day in the US in the next 100 days is too low a bar.

In Science this week: single-cell lineage tracing technique applied to study lung cancer metastasis, and more.