SEAMLESS Variant calling and classification FOR rare disease
- Published on: May 19 2023
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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
