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More articles about Genomics: Clinical Implementation

Research presented at ACMG by Invitae suggests that clinically actionable variants in cancer patients are missed by germline testing that is not done with expanded panels.

A NorthShore University HealthSystem and Color pilot picked up pathogenic variants in nearly 9 percent of unselected individuals with a hereditary cancer gene test.

The test will run on Oxford Nanopore's MinIon and will be used as a reflex test when the standard PCR test does not give a clear answer.

Researchers classified 64 hereditary cancer gene variants with RNA genetic test data, investigating related management changes and potential impacts in other DNA test recipients.

In a retrospective analysis, UK researchers found that long-read sequencing of HLA genes in stem cell transplantation donors and recipients led to better outcomes.

The center received a response to its initial submission to the NY State Department of Health in February and will re-submit by the end of this month.

 

A study of 10 commercial labs offering NIPT in the US found that none followed all recommendations for reporting results and informing patients and providers.

A study presented at the AACR meeting showed that Resolution's ctDx-Lung assay reported more oncogenic fusions than Guardant360 in NSCLC patients.

Clinical researchers at AACR discussed a wide range of approaches focusing on several different potential use-cases in the detection or assessment of early cancers.

The study supports the use of Envisia to help with the diagnosis of idiopathic pulmonary fibrosis, particularly in patients without a clear radiological result.

The overlapping development programs for first-generation larotrectinib and second-generation LOXO-195 signal narrowing drug development timelines in the era of precision oncology.

The company presented new data on the performance of a multi-pronged liquid biopsy assay in detecting colorectal cancers across a range of clinical stages.

Investigators from the pharma concluded that most liquid biopsy false positives and negatives could be traced to technical specifics of individual tests.

The firm is partnering with the Cleveland Clinic to validate its mutation variant caller platform in hepatocellular cancer cell-free tumor DNA samples.  

The hospital is in the process of clinically validating a sequencing pipeline for its pediatric cancer patients, with the goal of demonstrating clinical utility.

CMS had received significant stakeholder feedback that germline NGS testing is not the same as somatic testing, and that the NCD as written would negatively impact patients.

The study adds to growing evidence around the utility of cell-free DNA testing in lung cancer patients, while highlighting shortcomings of the approach.

The St. Louis-based firm will offer a sequencing service to help researchers separate target signals from errors made during next-generation sequencing. 

Ambry researchers recently published a study suggesting that roughly 40 percent of genetic variants reported in raw data from DTC genetic tests may be wrong.

Experts discussed the benefits and challenges of implementing precision medicine protocols for oncology patients at this week's Tri-Conference meeting

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University of Idaho researchers model the scientific discovery process to examine the link between reproducibility and scientific truth.

A bill passed by a US House of Representatives appropriations subcommittee would give scientific agencies including the National Science Foundation boosts in funding.

Relocating USDA agencies outside of Washington, DC, may make them less effective, critics of the move tell NPR.

In PLOS this week: genes that help Borrelia burgdorferi survive in ticks, CiliaCarta collection of about 1,000 suspected cilia genes, and more.