SEAMLESS Variant calling and classification FOR rare disease

Overview:

Molgenis Variant Interpretation Pipeline:

• From VCF, gVCF, BAM or FASTQ
• short-read and long-read support
• Best practice calling/annotation
• ML based prioritization (CAPICE)
• Customizable decision tree
• Interactive visual report
• Best practice alignment and variant calling
• Using diagnostics classification protocols

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