Human Genetics

Neurogenetics data encompasses the genetic and genomic information gathered to investigate the genetic foundations of nervous system development, function, and associated disorders. This data is sourced through diverse methodologies, each contributing to a holistic understanding of how genes interact with neurological processes and environmental influences. Genomic data, including whole genome sequencing (WGS), exome sequencing, and single-nucleotide polymorphisms (SNPs), provides insights into an individual’s genetic makeup, highlighting both common and rare variants, and identifying loci linked to neurological traits through genome-wide association studies (GWAS). Transcriptomic data, such as RNA sequencing (RNA-Seq) and single-cell RNA-Seq, sheds light on gene expression patterns in specific brain regions or individual cell types, revealing cellular diversity within the nervous system. Epigenomic data, involving DNA methylation, histone modification, and chromatin accessibility studies, uncovers mechanisms of gene regulation and how environmental factors modulate gene expression. Proteomic data offers a view into protein expression and modifications in neurons, illuminating functional pathways impacted by genetic changes. Additionally, neuroimaging combined with genomics integrates genetic insights with imaging technologies like MRI, fMRI, and PET to explore the structural and functional effects of genetic variants. Clinical and phenotypic data bridges the gap between genetic findings and their manifestations in cognitive function, behavior, and neurological symptoms, enabling a deeper understanding of neurogenetic disorders.