CNVs
CNV-Adjusted Analysis Points to Prognostically Informative Meningioma Methylation Groups
DNA methylation profiles and other genomic data for more than 550 meningioma tumors helped researchers identify epigenetic subgroups with prognostic features.
Study Finds Copy Number Variant Ties to Complex Human Traits
Data for 331,522 UK Biobank participants helped link CNVs to dozens of complex human traits and uncover pleiotropic, heterogeneous, and polygenic CNV effects.
The company plans to transition its DetermaIO test from research to clinical use and to launch a new research product for immunotherapy monitoring by the end of this year.
Mosaic Enhancer Mutations, CNVs Contribute to Risk of Developing Autism
Two new studies of people with autism spectrum disorder indicate that mosaic mutations and copy number variants contribute to a person's risk for the condition.
CNV Analyses May Uncover Mendelian Conditions in Undiagnosed Pediatric Patients
Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome sequencing.