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More articles about Advances in Clinical Genomics Profiling

Blueprint Genetics, recently acquired by Quest Diagnostics in January, will base the 600-gene panel on its whole-exome sequencing capability.

With the help of Bionano Genomics, Genoox, Rescale, and Amazon, the investigators aim to study 1,000 patients with SARS-CoV-2 to better understand the disease.

The panel's developers at UPenn hope to validate and commercialize a non-invasive assay through a startup called Chip Diagnostics.

The team also found that the proportion of infected people didn't change substantially during the screening period, consistent with beneficial containment.

Tumors from patients who underwent full surgical resection had distinct molecular profiles from those treated with neoadjuvant chemotherapy.

Exposure to DNA-damaging cancer treatments affects mutational signatures found in advanced and metastatic cancers, with alterations possibly indicating drug resistance.

The study suggests that pediatric low-grade gliomas driven by genetic rearrangements tend to be diagnosed earlier and have better outcomes than those driven by SNVs.

Combining questionnaire-derived phenotyping with hospital diagnoses increases the power to tease out genetic associations within biobank data.

Drawing from its massive consumer genetic dataset and longitudinal survey data, 23andMe is searching for genetic features that might influence the severity of SARS-CoV-2 infections.

The team envisions developing an assay to guide targeted treatment for metastatic castration-resistant prostate cancer patients.   

The firm recently published a study describing three assays for prostate cancer and reporting their sensitivity and specificity in case-control cohort.

The health system said that the program is encouraging patient compliance and increasing revenues and savings.

The approach deconvolutes admixed individuals' ancestries and develops polygenic risk scores based on each component that can then be combined.

Women with breast cancer from Peru, Mexico, or Colombia who had greater Indigenous American ancestry were more likely to have HER2-positive tumors.

The researchers identified rare germline loss-of-function variants across the ELP1 gene in 14 percent of pediatric patients in a medulloblastoma subgroup.

Researchers published the most comprehensive data to date showing that Grail's screening approach can detect and distinguish a significant number of cancers.

Myriad has partnered with Japanese firm SRL, a subsidiary of Miraca Group, to commercialize its BRACAnalysis Diagnostic System in Japan.

The method can be used with isothermal amplification and paper-based readouts to detect infectious disease drug resistance in low-resource areas.

Investigators worldwide are sharing data to search for features in the human genome that might contribute to COVID-19 susceptibility or progression.

An integrated analysis involving prostate cancer patients from China highlighted frequent FOXA1 mutations and deletions in two other genes.

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The Washington Post reports on researchers' efforts to determine the effect of an increasingly common SARS-CoV-2 mutation.

Florida Politics reports Florida's law barring life, long-term care, and disability insurers from using genetic information in coverage decisions went into effect at the beginning of July.

A new analysis finds a link between popular media coverage of a scientific study and how often that paper is cited.

In Nature this week: CRISPR approaches to editing plant genomes, way to speed up DNA-PAINT, and more.