Whole genome sequencing of youth with neuropsychiatric / neurodevelopmental disease. Homo sapiens

We performed whole-genome sequencing using large-insert mate-pair ‘jumping’ libraries to delineate both cytogenetically visible and cryptic SVs in 32 subjects representing a broad neuropsychiatric spectrum.

本研究采用大片段插入配对“跳跃”文库开展全基因组测序，以解析32名涵盖广泛神经精神疾病谱系的受试者体内，细胞遗传学可见及隐匿性的结构变异（structural variants, SVs）。