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Editor’s Selection on Splicing Variants and Copy Number Variation

Human Genome Variation is delighted to present its first Collection for the March 2019 issue.
Coordinated by the Editor-in-Chief, Professor Katsushi Tokunaga, this Collection features the latest Data Reports and Articles on the identifications of disease-causing splicing variants and copy number variations.

Data Report


“Identical„ twins in which only one twin has a psychiatric illness may not be so genetically identical after all. A genomic sequencing analysis from Koh-ichiro Yoshiura and colleagues from Nagasaki University Graduate School of Biomedical Sciences, Japan, has identified a 30-year-old male with gender dysmorphia (also known as gender identity disorder) who harbors three non-inherited mutations in a subset of his cells that his healthy twin does not have. The researchers made this finding by sequencing all the protein-coding DNA from five identical twin pairs in which one twin only had a neurodevelopmental disorder (schizophrenia, autism or gender dysphoria ) as well as from a healthy control twin pair. They conclude that mutations that arise in some body cells in later stages of development could help explain psychiatric differences between identical twins.

Article | Open Access | | Human Genome Variation