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The methods address challenges like recall and precision, comparing different representations of variant calls, and stratifying performance by variant type and genome context.

The deal will focus on Biocartis' Idylla MSI test, which provides information on a tumor's microsatellite instability status of a tumor from a single FFPE slice.

The company said that diagnostic testing volumes, product and royalty revenues, and clinical services revenues all fell year over year.

A number of the variants uncovered by an international research team appear to "tune" which hematopoietic cell lineage is produced.

The budget calls for $34.4 billion for the NIH in the coming fiscal year, including $492 million in resources made available through the 21st Century Cures Act.

With retrospective and prospective analyses on women with BRCA1/2 mutations, investigators began teasing out breast cancer risk relative to reproductive history.

Last week, GenomeWeb's readers were most interested in MGI Tech's plans to enter the North American and European markets.

Using BGI's sequencing technology, the firms plan to commercialize Natera's Signatera test in China and to develop reproductive health tests in "select markets."

Together with gene expression results from affected tissue, the findings suggest that drugs such as JAK inhibitors may be effective for the treatment of FFA.

The agency said it is sensitive to stakeholder concerns and is working with MACs to adjust claims processing systems.

Shanghai RAAS will become Grifols' exclusive distributor of plasma-derived products and transfusion diagnostic solutions in China.

The researchers analyzed samples from 60 countries to find antimicrobial resistance gene levels correlated with economic, health, and environmental factors.

The firm's revenues rose to $21.5 million from $14.8 million in 2017, driven by expansion of its biomarker profiling services business and collaborative program.

Though the firm saw lower overall revenue, it increased its fourth quarter and full-year product and services revenue by 12 percent and 16 percent respectively.

The company posted Q4 revenues of $10.9 million, up from $6.6 million in Q4 2017, beating the consensus Wall Street estimate of $9.3 million.

Genomic and transcriptomic data for almost 500 triple-negative breast cancer cases revealed four expression subtypes and suspected treatment targets.

Analyzing mutational signatures in cancer cell lines and xenografts, investigators identified mutagenic processes that do or don't remain active in vitro.

The partners aim to determine whether the microbiome can be used to predict patient responses to certain inflammatory bowel disease therapies.

Four awardees will use Intermountain's NGS One Genomic Services for projects that focus on precision medicine, clinical, and translational research.

The test is designed to identify and differentiate between Zika, dengue, and chikungunya in serum samples, even in the presence of more than one target.

The company said its testing services revenues for the quarter rose nearly 120 percent year over year.

Epigenomics terminated its collaboration with China's BioChain for the licensing of the septin9 marker and exclusive Chinese distribution rights for Epi proColon.

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The Wall Street Journal looks into FamilyTreeDNA's handling of genetic genealogy searches by law enforcement.

In a point-counterpoint in the Boston Globe, researchers discuss the potential of gene editing to prevent Lyme disease, but also the pitfalls of doing so.

MIT's Technology Review reports that researchers hope to develop a CRISPR-based pain therapy.

In Science this week: atlas of malaria parasites' gene expression across their life cycles, and more.