Skip to main content
Fig. 1 | Human Genomics

Fig. 1

From: Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset

Fig. 1

Filtering for mosaic variants using a bioinformatics pipeline. VCF files were analyzed to find variants that were heterozygous in probands. Variants that were called as heterozygous with a VAF < 30% or above 70% were eliminated. Variants with a read coverage below 20 × were excluded. It was also required that variants had a MAF < 0.01% in GnomAD and < 0.015% in the BHCMG dataset and were not located in repetitive gene regions or pseudogenes. Variants with VAF below 10% mosaic were not called using standard mosaic variant calling pipelines

Back to article page

Human Genomics

ISSN: 1479-7364