Analysis of Transcript Expression Profile in Premature Ovarian Insufficiency Based on the Full-length Transcriptome

Premature ovarian insufficiency (POI) is a reproductive endocrine disorder characterized by infertility and the perimenopausal syndrome. Its genetic etiology is highly heterogeneous and not yet fully understood. Limited by short-read sequencing, the profile and structural variation of the full-length transcript for POI have remained elusive. Therefore, this study is the first to characterize the full-length transcript of POI by Oxford Nanopore sequencing.

早发性卵巢功能不全（Premature ovarian insufficiency, POI）是一类以不孕与围绝经期综合征为特征的生殖内分泌疾病。其遗传病因具有高度异质性，目前尚未完全阐明。受限于短读长测序技术，早发性卵巢功能不全相关全长转录本的表达谱与结构变异特征至今仍不明确。因此，本研究首次采用牛津纳米孔测序（Oxford Nanopore sequencing）技术对早发性卵巢功能不全的全长转录本进行特征解析。