chromosomal abnormalities
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.
Juno Diagnostics Ceases Commercial Operations
The prenatal testing firm had developed minimally invasive assays based on finger pricks instead of phlebotomy.
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
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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.