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gatk4-haplotypecaller

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A streamlined pipeline for germline variant calling on chromosome 11 using GATK. This repository includes workflows for data preprocessing, variant discovery, and annotation, with a focus on understanding genetic variations linked to disease-associated genes.

  • Updated Nov 26, 2024
  • R

Optimized Python and C++ implementations of INDELseek, a Perl tool for detecting complex genetic indels in NGS data, with performance improvements, validation, and benchmarking against other variant callers.

  • Updated Nov 27, 2024
  • C++

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