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Discovering, Genotyping, and Annotating Structural Variants with the Genome Analysis Toolkit (GATK).

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2026

Caetano-Anollés Derek

Abstract excerpt

The Genome Analysis Toolkit (GATK) is a widely used software suite for identifying and annotating genomic variants from high-throughput sequencing data. Originally developed by the Broad Institute, GATK has become a cornerstone in genomic research thanks to its modular design, reproducible workflows, and integration with cloud platforms. Key tools such as HaplotypeCaller, Mutect2, and Funcotator enable...

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PMID: 42056690
DOI: 10.1007/978-1-0716-4836-0_6

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