Gene Discovery in Mendelian Brain Disorders
2,552 views · Published 4 November 2015 · 8:36 · Indexed 4 November 2026
Channel: Cell Press · 2015 · Science & Technology
A Center for Mendelian Genomics gene discovery study is presented that utilizes genomic approaches, which detect rare variant—single nucleotide variants (SNVs) and copy number variants (CNVs)—combined with neuroimaging and in silico analyses in human subjects with various cortical abnormalities. By analyzing a large cohort of families, several novel potential candidate genes are identified; the study allows for a better understanding of genetic networks underlying specific types of cortical development and brain malformations. For more details, see Karaca et al., Neuron 88(3), at http://www.cell.com/neuron/abstract/S0896-6273(15)00837-5.
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