CNVs
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.
Completed Y Chromosome Sequences Offer Look at Repeat Structure, Variation
In a pair of new studies, researchers introduced a newly completed reference for the Y chromosome, while delving into sequence and repeat variations found between individuals.