Abstract / Summary
This project performed whole-exome sequencing (WES) on a pediatric patient presenting with long-term isolated thrombocytopenia to investigate the underlying genetic etiology. The patient was previously misdiagnosed with immune thrombocytopenia (ITP) for over one year and showed variable responses to conventional therapies. The sequencing data underwent rigorous quality control and bioinformatics analysis, with a focus on variants in genes associated with platelet disorders. Through this study, we aim to reveal the molecular mechanisms contributing to this complex phenotype and provide genetic evidence for clinical diagnosis. The raw sequencing data (FASTQ) generated from this project have been archived for validation and secondary analysis.
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