The researchers combined genomic, transcriptomic, and proteomic profiling to gain insight into the basic biology and possible treatments for the disease.
CMS has attempted to address stakeholders' concerns about its coverage criteria for germline NGS testing in a new proposed national policy.
Negative results in recent trials have highlighted the challenges that newer genomic test makers must overcome in proving methods for personalized CUP treatment.
The program will likely only generate sequencing data, not genotyping array data, for returning health-related results to reduce the complexity associated with two platforms.
The NHGRI said it expects to fund between three and five research centers, as well as one coordinating center, over a five year period.
The researchers estimated that addition of RNA-based testing could benefit about 1 in 43 individuals undergoing hereditary cancer predisposition genetic testing.
Tumor genomes from almost 2,400 patients with metastatic cancer revealed a range of somatic alterations, providing a foundation for clinical sequencing efforts.
Circulating tumor DNA detection in stage III colon cancer patients after surgery and adjuvant chemotherapy coincided with a rise in recurrence risk.
At ASHG, researchers showed why they're moving away from limited, linear human reference genome representations and towards a more inclusive future.
A new study in Science used allele-specific expression data to find candidate genes that may have contributed to mendelian muscle disease in patients.
The researchers said the test performed well in distinguishing patients with or without complications and proved itself better than frequently used clinical variables.
Tempus Labs researchers said they could match more than 40 percent of patients to a targeted treatment and 77 percent of patients to a relevant clinical trial.
The WGS analysis placed the triple-negative breast cancers into three groups, each of which had different treatment responses and prognoses.
The early-stage genomics-based trials suggest tumor sequence can be informative for late-stage cancers, as an ESMO group seeks clinically meaningful translation.
A report from the NSIGHT2 trial compares the diagnostic and analytical performance of clinical whole-genome and exome sequencing on an infant cohort.
Using 350 human genomes from different populations, the two centers plan to develop a multi-genome reference sequence that is as complete as possible.
The Royal Oaks, Michigan-based firm anticipates launching the assay — which currently analyzes 214 genes for prostate cancer risk — for research-use-only applications in H2 2020.
The Genomics Research and Innovation Network (GRIN) is a federated platform from three major pediatric hospitals to assist in research and treatment of rare diseases.
The study will evaluate how Prolaris impacts prostate cancer treatment decisions, and how those decisions impact costs within UK's National Health Service.
Machine learning and DNA methylation analyses helped distinguish between primary lung tumors and lung tumors stemming from head and neck cancer metastasis.
Nature News reports that gene therapy approaches are tackling sickle cell disease, but that the cost of treatment is a concern.
The Washington Post reports that a US Senate committee voted this week to approve the nomination of Stephen Hahn to lead the Food and Drug Administration.
One gene regulates hundreds of others to influence facial development, according to New Scientist.
In Nature this week: resources for single-cell analysis, little overlap in the microRNAs used by Salmonella and Shigella to infect host cells, and more.