Psychiatry Advisor

Do Polygenic Scores Predict Psychiatric Illness Better Than Variants?

A new analysis explores the genetic liability of psychiatric disorders using polygenic scores and recurrent copy number variants.
Nature

Importance of copy number variants in childhood apraxia of speech and other speech sound disorders

Human speech is a complex phenomenon engaging >72 muscles with synchronized control, modulated by the nervous system. Speech, the most common form of human communication, is naturally acquired by ...
Nature

Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort

Clinical exome sequencing (CES) is a routine diagnostic tool for rare Mendelian genetic disorders. The reported rate for identification of the causative single nucleotide variant (SNV) or ...
Medical Xpress

Using exome sequencing to analyze copy number variants can increase diagnostic yield

However, ES is not the first choice for detecting copy number variants (CNVs), which are typically deletions or duplications of DNA segments. CNVs cause a significant proportion of genetic disorders.