PPGD
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资源简介:
This database is constructed to address the lack of population-specific data for prenatal screening strategies. Based on clinical data from non-invasive prenatal testing (NIPT) and NIPT-plus low-depth sequencing cohorts, combined with postnatal whole-exome sequencing (WES) results, it provides a multi-dimensional dataset of prevalent monogenic diseases in the Chinese population. The database integrates gene and variant spectra, with a user-friendly interface supporting disease frequency, variant frequency, and data source queries. It aims to provide scientific evidence for developing population-specific prenatal screening strategies and solutions.
提供机构:
Fudan University创建时间:
2026-06-09



