Venous Thromboembolism Risk Rise Reported in Individuals With Extra Sex Chromosomes
Researchers saw a significant uptick in VTE risk in individuals with supernumerary sex chromosome aneuploidies in both the Geisinger MyCode and UK Biobank cohorts.
Juno Diagnostics Lowers Barriers to Noninvasive Prenatal Testing With At-Home Sample Collection
The Hazel assay uses finger prick amounts of blood, from which it immediately separates plasma that can be shipped at room temperature for chromosomal analysis.
Pan-Cancer Analyses Reveal Copy Number Signatures, Chromosomal Instability Patterns
Investigators identified up to 21 copy number signatures in cross-cancer analyses, including potential disease response markers and signatures linked to chromosomal instability features.
MSK Genomic Analysis Uncovers Features of Metastatic Cancer
Using data for more than 25,000 metastatic cancer patients, researchers retraced alterations associated with metastatic disease risk across cancer types and target sites.
Team Presents Optical Genome Mapping Method for Finding Chromosomal Alterations
In a pair of new studies, investigators retrospectively identified known chromosomal alterations in samples from individuals with hematological malignancies and other conditions.