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Distribution of VAFs among six different tissues: blood, saliva, buccal, skin fibroblast, hair, and urine. Analyses were performed for nine individuals, including three unaffected parents and six affected probands. In the case of blood tissue, VAF was estimated based on both ES (labeled as “Blood_ES”) and amplicon-based NGS data (labeled as “Blood”). In six out of eight cases, there was at least one tissue for which VAF was estimated to be higher than VAF in blood.
