The code repository for our genetic analysis research that based on ultra-low depth sequencing data

CfDNA end selection for cancer diagnosis

Extremely fast BAM depth calculation for WGS, exome, or targeted sequencing

VCF visualization interface

MrMosaic (Genomic Mosaic Structural Variant Caller)

公众号[庄闪闪的成长手册]对应的R资料（代码+数据）

Pipeline to analyse Mosaicism

NIPT-PG: Empowering Non-Invasive Prenatal Testing to learn from population genomics through an incremental pan-genomic approach

compilation of script for the use of CANOES

NIPTplus

NIPT script for detecting chr13/18/21 aneuploid from Ion torrent NGS data

A more accurate NIPT analysis tool

In view of the lineage relationship between tumors and the specificity of tumor methylation pattern, the Cancer-hierarchical-classifier was developed by machine learning algorithm.

A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS

SMN1 copy-number and sequence variant analysis from next generation sequencing data

Pathogen NGS Documentary

🔬 Path to a free self-taught education in Bioinformatics!

整理开源的中文大语言模型，以规模较小、可私有化部署、训练成本较低的模型为主，包括底座模型，垂直领域微调及应用，数据集与教程等。

Analysis of cfDNA with nanopore sequencing

Multi-modal analysis of cell-free DNA for the early detection of cancer in Li-Fraumeni syndrome.