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.

Exploring the Genomic Dark Matter of Neurodevelopmental Disorders

18 variables across Demographics, Race and Ethnicity

Exploring the Genomic Dark Matter of Neurodevelopmental Disorders

Demographics (2)

Race and Ethnicity (1)

Other (15)