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.
Individuals with germline PTEN mutations who have autism spectrum disorder or developmental delay often also have copy number variations, a new study has found.
CHOP researchers uncovered CNV associations with four disease categories: autoimmune, cardio-metabolic, oncologic, and neurological/psychiatric diseases.
Researchers discovered a duplication affecting the RYR2 gene in two families, which may indicate that it is a founder mutation in the Amish population.
A new UK government says socioeconomic factors, not genetics, account for disparities in deaths due to COVID-19 between ethnic groups, the Financial Times reports.
