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The company believes cytogeneticists will adopt its panel to get high-quality SNV and CNV data in a single assay.
Individuals with germline PTEN mutations who have autism spectrum disorder or developmental delay often also have copy number variations, a new study has found.
Thousands of parent-child exomes helped researchers identify apparently causative mobile element insertions in a handful of children with developmental disorders.
Functional analyses indicated that the de novo variant in AP2M1 found in four patients affects clathrin-mediated endocytosis and synaptic vesicle recycling.
Investigators used gene panel sequence data to look at rare de novo variant frequencies in potential risk genes for neurodevelopmental disorders with epilepsy.
By sequencing several individuals with unexplained pancreas and brain development problems, investigators identified a recurrent missense mutation in the CNOT1 gene.
Common non-coding variants, along with rarer coding alterations, appear to contribute to a developmental disease with bowel and other gastrointestinal symptoms.
The clinical genome-wide DNA methylation test can diagnose genetic diseases that are missed by exome or genome sequencing and evaluate variants of unknown significance.
By partnering with telehealth provider PWNHealth, Lineagen wants to help children on the autism spectrum start treatment faster and qualify for more benefits.
Researchers were able to classify 1,244 of 4,585 putatively clinically relevant rare variants genotyped on the UKB microarray as high quality.
The editorial board of the Pittsburgh Post-Gazette says other lawmakers should take Florida's approach and provide additional protections against genetic discrimination.
The Hill reports 17 states and the District of Columbia are suing over a new policy that would strip international students of their visas if they only attend classes online.
Centers for Disease Control and Prevention employees call on the agency to label racism a public health crisis and examine its own policies, NPR reports.
In PNAS this week: genetic evidence for Inca resettlement, analysis of spermatogonial stem cell transcriptomes, and more.