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Visium, which provides gene expression information along with spatial information from the same tissue sample, will be shipped later next month.
According to simulations and a study of large families presented at ASHG this week, current polygenic scores cannot accurately predict complex human traits.
At ASHG, researchers showed why they're moving away from limited, linear human reference genome representations and towards a more inclusive future.
A study presented at ASHG Tuesday showed that 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.
New analyses indicate female researchers are publishing less during the coronavirus pandemic than male researchers, according to Nature News.
A study suggests people with the ApoE e4 genotype may be more likely to have severe COVID-19 than those with other genotypes, the Guardian says.
Direct-to-consumer genetic testing companies are searching for a genetic reason for why some people, but not others, become gravely ill with COVID-19, the Detroit Free Press reports.
In PNAS this week: forward genetics-base analysis of retinal development, interactions of T cell receptors with neoantigens in colorectal cancer, and more.