CNVs
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.
Adrenal Neuroblastoma Cell Features Found by Single-Cell Transcriptome Sequencing
Single-cell RNA sequencing on adrenal gland samples with or without neuroblastoma helped track down key malignant subtypes and tumor features, providing prognostic clues.
Pancreatic Cancer Treatment Clues Uncovered From Genomic, Chromatin Profiles
Genomic and epigenomic data suggest it may be possible to target an FGFR fusion found in open chromatin in a subset of adenosquamous carcinoma of the pancreas tumors.