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Figure 1 | BMC Bioinformatics

Figure 1

From: FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets

Figure 1

Standard bioinformatics pipeline for the analysis of rare single nucleotide variants (SNVs). FAVR methods can be applied to assist the shortlisting of SNVs by using the PE Bias Detector tool, the Rare and True Filter and the Family Annotate Tool. FAVR integrates seamlessly into standard pipelines as it uses widely used file formats (BAM and vcf format files).

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