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.
Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome 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.
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.
Researchers mapped and characterized rare structural variants in whole-genome sequence data for almost 18,000 individuals for future disease and trait studies.
Integrated analyses uncovered recurrent changes in renal medullary carcinoma, including potential treatment vulnerabilities stemming from DNA replication stress.
An analysis of lung adenocarcinoma brain metastases uncovered more frequent amplifications or deletions in a handful of genomic regions, pointing to potential drivers.
