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Variant Calling

The process of variant calling  is employed to identify single nucleotide variants from sequencing data. Sequencing data is produced by carrying out whole genome or whole exome sequencing, producing FASTQ files. These sample files need aligning to a reference genome, resulting in either BAM or CRAM files. Fron there, we identify the reads which differ from the reference genome – to produce our VCF file.  


Quality Control Tools

Alignment tools

Deduplication tools

Local Realignment tools

Variant Annotation tools

Variant Validation tools

MutationValidator ​