Genome Analysis Toolkit

Variant Discovery in High-Throughput Sequencing Data

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Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools with a primary focus on variant discovery and genotyping. Its powerful processing engine and high-performance computing features make it capable of taking on projects of any size. Learn more

Variant Quality Score Recalibration (VQSR) Follow

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    This link is broken:

    The human genome training, truth and known resource datasets that are used in our Best Practices workflow applied to human data are all available from our Resource Bundle.

    A link to the tools to make truth and training resource dataset would be welcomed.

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