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A new paper outlines an upcoming effort to trace tumor development and trajectory in time and space using single-cell genetics and other genomic methods.
The three hospital laboratories' tests are all real-time PCR assays for detecting the virus from nasopharyngeal swabs and bronchoalveolar lavage.
Nearly 3,500 patients were referred to the Roberts Individualized Medical Genetics Center for exome sequencing or other testing during the clinical program's first four years.
CHOP researchers uncovered CNV associations with four disease categories: autoimmune, cardio-metabolic, oncologic, and neurological/psychiatric diseases.
Researchers in the US and the United Arab Emirates found that RNA-seq in B-lymphoblastoid cell lines can help identify pathogenic variants that DNA testing missed.
The Genomics Research and Innovation Network has built an open-source system for querying genotype-phenotype databases at its member hospitals.
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.
At the NCI's Childhood Cancer Data Initiative Symposium, speakers emphasized measures such as data harmonization and the need for longitudinal data collection.
In PNAS this week: mathematical model of metastatic seeding, mitochondrial mutation effects, and more.
Functional analyses indicated that the de novo variant in AP2M1 found in four patients affects clathrin-mediated endocytosis and synaptic vesicle recycling.
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.