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ASHG

The study presented at ASHG Tuesday showed that the newly identified schizophrenia risk genes appear to have some overlap with genes involved in autism spectrum disorder.

The guidelines suggest researchers recontact participants when there is change in the interpretation of their genetic results that could affect medical management.

Early results from preemptive genomic testing are raising questions about the prevalence and penetrance of pathogenic variants, and who is pursuing such testing.

During the first year of the TRIDENT-2 study, 74,000 women opted for NIPT, which was switched from in-house-developed platforms to Illumina's VeriSeq in May of this year.

In the Finnish GeneRisk study, patients at high risk for heart disease were especially motivated to take action if their polygenic risk score was high.

At ASHG, researchers described how RNA sequencing can help clarify whether variants are likely to be pathogenic, improving diagnoses of genetic disorders.

The study provided whole-exome diagnostic sequencing for 106 newborns with hearing loss while also offering optional screening results for genes associated with childhood-onset conditions.

The firm plans to conduct a prospective trial of a pan cancer assay and aims to bring another assay focused on colorectal cancer through FDA clearance.

Researchers at ASHG reported on projects studying the potential of implementing on a large scale rapid WGS in NICUs for faster diagnosis of genetic disorders.

Researchers at Memorial Sloan Kettering Cancer Center identified clinically actionable germline mutations in 8.5 percent of about 2,700 unselected lung cancer patients.

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A new study catalogues the genome and evolutionary history of the oak family, UPI reports.

Dog DNA testing is a growing market, but there's still a lot of uncertainty about the accuracy of the results, the Boston Globe says.

A University of South Florida researcher is testing bone fragments to determine if they belong to Amelia Earhart.

In Cell this week: antisense Piwi-interacting RNA responses to endogenous retroviruses, proteomic patterns in hepatocellular carcinoma, and more.