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Segpy: a streamlined, user-friendly pipeline for variant segregation analysis

2024-12-29 genetic and genomic medicine Title + abstract only
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Understanding the role of genetic variants in disease is essential for diagnostics and the advancement of genomic medicine. While the advent of high-throughput sequencing has been matched by the development of sophisticated genomic analysis tools, these packages often involve complex analytical procedures that can be challenging for researchers with limited computational experience. Additionally, modern genomic datasets require high-performance computing (HPC) systems, which may be difficult to ...

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