This is the official development repository for BaseVar, which call variants for large-scale ultra low-pass (<1.0x) WGS data, especially for NIPT data
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Updated
Oct 25, 2024 - C++
This is the official development repository for BaseVar, which call variants for large-scale ultra low-pass (<1.0x) WGS data, especially for NIPT data
Short reads aligner for NIPT/CNV
Bayesian-based fetal genotyping using maternal cell-free DNA and parental sequencing data.
用每个窗口的read数作为特征、胎儿浓度作为标签,训练神经网络模型;训练完成的神经网络模型可用于NIPT胎儿浓度的预测
NIPT-human-genetics is a semi-automated workflow designed for the analysis of large-scale ultra-low-pass non-invasive prenatal test (NIPT) sequencing data in human genetic studies.
Non-Invasive Prenatal Testing (NIPT) size selection and deduplication pipeline
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