mutation detection
Sequencing Study Suggests Mutations Underlying Cerebral Cysts May Inform Severity, Treatment Options
Using parent-child exomes, researchers saw cerebral arachnoid cyst-related de novo variant enrichment in seven genes, offering clues to related symptoms and severity.
Germline Mutation Rates Differ Vastly Across Vertebrate Species; Show Sex Bias in Mammals, Birds
A team led by researchers in Denmark and China sequenced the genomes of 151 parent-offspring trios covering 68 species of mammals, fish, birds, and reptiles.
Genomic Classifier for Kidney Cancer Recurrence Risk May Help Personalize Adjuvant Therapy
Sequencing of 12 cancer-related genes in clear-cell renal cell carcinoma samples identified combinations of somatic mutations that were linked to recurrence risk.
Breast Cancer Outcomes Show Ties to Neighborhood Income in New Study
In estrogen receptor-positive breast cancer patients, lower income appeared to track with higher tumor expression-based recurrence scores, and shorter survival in the low-risk RS group.
Ewing Sarcoma Risk Locus Analysis Sheds Light on Cancer's Formation
Analyzing a chromosome 6 risk locus by long-read sequencing, researchers saw a combination of germline and somatic alterations interacting in the development of Ewing sarcoma.