Neurodevelopmental Disorders study with CNV (NGS) data on dbGaP (52 participants)

phs002937 — Exploring the Genomic Dark Matter of Neurodevelopmental Disorders

Neurodevelopmental Disorders (NDDs) are a group of disorders that typically manifest early in development and may give rise to impaired cognition, communication, adaptive behavior, and psychomotor skills. This study aims to take a more comprehensive view into the genomic landscape of structural variants implicated in NDDs with intellectual disability (ID). We have evaluated the genome of families with a genetically unsolved severe NDD via optical genome mapping. This study identified likely pathogenic or pathogenic structural variants in known NDD genes, including <a href="https://www.ncbi.nlm.nih.gov/gene/53335">BCL11A</a>, <a href="https://www.ncbi.nlm.nih.gov/gene/4983">OPHN1</a>, <a href="https://www.ncbi.nlm.nih.gov/gene/23133">PHF8</a>, <a href="https://www.ncbi.nlm.nih.gov/gene/6651">SON</a>, and <a href="https://www.ncbi.nlm.nih.gov/gene/4774">NFIA</a>. Data is available in VCF format, following the standard filtering settings in Bionano Access and available as "variants_combine_filters_inMoleRefine1.vcf" files.