CNVs
Glioma Study Unravels Molecular Features of Tumors From Adolescent, Young Adult Patients
Individuals with low-grade tumors and pediatric glioma-like alterations tended to have better progression-free survival and overall outcomes than others.
At the American College of Medical Genetics and Genomics annual meeting, members of two working groups provided an early look at new versions of the existing standards.
Ovarian Cancer Detected Early With DNA From Pap Smear in Proof-of-Principle Study
Researchers developed an early ovarian cancer test based on DNA from Pap smears from women who went on to develop high-grade serous ovarian cancer.
Fetal Exome Sequencing Studies Point to Noninvasive Prenatal Screening Applications
New research suggests trio exome sequencing on parental DNA samples and cell-free DNA from maternal plasma can successfully uncover clinically relevant fetal variants.
Neuroblastoma Mutational Processes Uncovered by Whole-Genome Sequencing
Using matched tumor-normal genome sequencing, investigators discovered distinct mutational processes in three clusters of high-risk or non-high-risk neuroblastoma cases.