2177fcf0-fe86-4de1-8a7b-02b67f71c3d5 - samples

This dataset has two Variants Files in VCF format used in ABB project (https://github.com/Francesc-Muyas/ABB).
One has the variants found in a Rare Variant Association Study performed in CLL patients. This has 1217 samples represented.
The other variant file has 209 SNPs predicted in 10 samples by GATK HaplotypeCaller and selected for Sanger Sequencing Validation.
Raw reads were aligned against the Human Reference genome (Hg19) with BWA mem and variants were obtained using GATK HaplotypeCaller.EGA dataset EGAD00001004132

本数据集包含两份VCF格式（Variant Call Format）的变异文件，应用于ABB项目（项目地址：https://github.com/Francesc-Muyas/ABB）。
其中一份文件收录了慢性淋巴细胞白血病（Chronic Lymphocytic Leukemia, CLL）患者罕见变异关联研究中发现的变异位点，共涵盖1217个样本。
另一份变异文件包含209个单核苷酸多态性（Single Nucleotide Polymorphism, SNPs）位点，这些位点由GATK HaplotypeCaller工具在10个样本中预测得到，经筛选后用于桑格测序（Sanger Sequencing）验证。
原始测序reads通过BWA mem比对至人类参考基因组Hg19，变异位点的调用采用GATK HaplotypeCaller工具完成。本数据集为欧洲基因组-表型组档案（European Genome-phenome Archive, EGA）中的EGAD00001004132号数据集。