The structural variations (SVs) in the non-coding region of 5q14.3 near a gene called MEF2C — a transcription factor, has been linked to neurodevelopmental disorders (NDDs). The paper, published in the American Journal of Human Genetics, is the first to describe the long-range effects of coding and non-coding MEF2C variants in human iPSCs derived neuronal [...]
Recurrent and reciprocal copy number variations (CNVs) pose a substantial risk for neurodevelopmental and neuropsychiatric disorders. One example of such CNVs is recurrent deletion and duplication of an ~ 743 kb genomic segment of chromosome 16p11.2, which consists of an ~ 593 kb unique segment encompassing 27 protein-coding genes and an ~ 150 kb flanking [...]
Large copy number variants (CNVs)—deletions or duplications of more than 100,000 DNA nucleotides—are collectively one of the strongest risk factors for abnormal neurodevelopment. However, interpreting CNVs in clinical genetic practice is challenging due to the lack of standardized resources for predicting the impact of CNVs on individual genes. By harmonizing and jointly analyzing genetic data [...]
Leveraging genetic sequencing data of the protein-coding portion of the human genome from more than 60,000 individuals, we found 72 genes to be associated with autism spectrum disorder (ASD) at a stringent threshold of less than 0.1% false discovery rate (FDR). The bulk of the evidence for these implicated genes were contributed by de [...]
