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

ReblockGVCF (BETA) Follow

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    Overview. Condense homRef blocks in a single-sample GVCF. ReblockGVCF compresses a GVCF by merging hom-ref blocks that were  slope unblocked  produced using the ...Typical human whole genome sequencing results expressed in gVCF with annotation are less than 1 Gbyte, or about 1/100 the size of the BAM file used for variant calling. If you are performing targeted sequencing, gVCF is also an appropriate choice to represent and compress the results.

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