Genomic variations and chromosomal abnormalities

Transient structural variations alter gene expression and quantitative traits in Schizosaccharomyces pombe.

The paper investigates how structural variations in yeast genomes affect gene expression and quantitative traits, finding that copy number variants significantly influence phenotypes and reproductive isolation.

Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions

This paper validates the analytical and clinical utility of FirstStepDx PLUS, a chromosomal microarray optimized for neurodevelopmental conditions, showing its effectiveness in detecting copy number variants using buccal and blood samples.

Variable penetrance of the 15q11.2 BP1-BP2 microduplication in a family with cognitive and language impairment

The paper reports a family with a 15q11.2 BP1-BP2 duplication showing variable phenotypes, suggesting gene expression level changes may affect cognitive development.

A computational method for detection of structural variants using Deviant Reads and read pair Orientation: DevRO

DevRO detects structural variants in multiple populations using paired-end mapping and depth of coverage without pairwise comparisons.