Related Experiment Video
Updated: Jul 18, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Somatic cell structural variant mutagenesis and neurologic disease
1Departments of Molecular & Human Genetics, and of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA.
Abstract:
Detection of organismal mosaic states for variant alleles faces technical and analytical challenges, as does the association of such variant alleles with susceptibility to neurologic disease. In this issue of Cell Genomics, Maury et al.1 reanalyze genotyping arrays of a schizophrenia cohort providing evidence for the contribution of somatic structural variant mutagenesis and rare variant alleles.
More Related Videos
Related Concept Videos
Mutations
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Cancers Originate from Somatic Mutations in a Single Cell

