Integrative cytogenetic and molecular studies unmask "chromosomal mimicry" in hematologic malignancies.

The detection of structural variants (SVs) represents a critical component in the diagnostic evaluation and treatment of many hematologic malignancies. Although clinical SV testing mainly consists of traditional cytogenetic methodologies, technological innovations have led to alternative approaches with improved resolution. In this study, we sought to characterize the clinical impact of targeted RNA sequencing on the diagnosis of myeloid and immature lymphoid malignancies.

Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes.

Copy-number variants (CNVs) that increase the risk for neurodevelopmental disorders also affect cognitive ability. However, such CNVs remain challenging to study due to their scarcity, limiting our understanding of gene-dosage-sensitive biological processes linked to cognitive ability. We performed a genome-wide association study (GWAS) in 258,292 individuals, which identified-for the first time-a duplication at 2q12.

Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic Testing.

Prenatal diagnostic testing of amniotic fluid, chorionic villi, or more rarely, fetal cord blood is recommended following a positive or unreportable noninvasive cell-free fetal DNA test, abnormal maternal biochemical serum screen, abnormal ultrasound, or increased genetic risk for a cytogenomic abnormality based on family history. Although chromosomal microarray is recommended as the first-tier prenatal diagnostic test, in practice, multiple assays are often assessed in concert to achieve a final diagnostic result. The use of multiple methodologies is costly, time consuming, and labor intensive.

Coping with environmental degradation: Physiological and morphological adjustments of wild mangrove fish to decades of aquaculture-induced nutrient enrichment.

The impact of eutrophication on wild fish individuals is rarely reported. We compared physiological and morphological traits of Siganus lineatus chronically exposed to aquaculture-induced eutrophication in the wild with individuals living at a control site. Eutrophication at the impacted site was confirmed by elevated organic matter (up to 150 % higher), phytoplankton (up to 7 times higher), and reduced oxygen (up to 60 % lower).