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Getting Started/Import Variant Call Files

Import Variant Call Files

Import variant call files into BaseSpace Variant Interpreter from a network, local directory, or BaseSpace Sequence Hub. Each file is an analysis result that contains variants called for the sample. Variants are annotated automatically during import, and each imported file becomes a case.

If you experience a VCF import failure and are unable to resolve the issue by reuploading the file, contact technical support.

Note

The software does not annotate or display variants that are homozygous reference or hemizygous reference, including positions where the reference genome contains a minor allele. For samples containing these variants, expect a difference between the number of variants in the VCF file and the number of variants imported.