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exome sequencing

Multinational nephrology firm Fresenius Medical Care eventually wants as many as 200,000 samples in its registry and aims to sequence 20,000 patients this year.

In Nucleic Acids Research this week: pan-cancer atlas focus on miRNA biogenesis mutations, methylation analysis of pig skeletal muscles, and more.

The company brought in $20.2 million during the quarter, driven by strong biopharma revenue, with orders increasing for both its core services and new liquid biopsy offering.

The Helix Laboratory Platform is the first whole-exome sequencing platform to receive do novo authorization by the agency and paves the way for others.

In Genome Biology this week: loci linked to longitudinal pediatric bone accrual, role of complement cascade gene in pancreatic cancer metastases, and more.

In PLOS this week: genomic and transcriptomic analysis of conjunctival melanoma, phylogenetic analysis of Clostridioides difficile, and more.

The findings indicate that rare genetic variants in cardiomyopathy-related genes may also contribute to more common forms of heart failure. 

In PNAS this week: ultrarare variants contribute to aging-related hearing loss, telomeres of cells infected with herpesvirus, and more.

A National Society of Genetic Counselors panel discussed whether healthcare providers are ready for whole-genome sequencing to be adopted as a first-line test.

Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome sequencing.

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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.