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Fig. 2 | Human Genomics

Fig. 2

From: Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease

Fig. 2

Variant extraction and processing workflow. The extracted variants, present in Exome Aggregation Consortium (ExAC) [3], were assessed for supporting evidence in the current literature (PubMed peer-reviewed articles) and subsequently, for the ratio of reads using the Integrative Genomic Viewer (IGV; used as an indicator of somatic evidence) [37]. For the final nine genes associated with early onset, severe Mendelian diseases and with good evidence of somatic mosaicism, the assessment of allelic imbalance was compared with gnomAD data [4] (Additional file 1: Table S4)

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Human Genomics

ISSN: 1479-7364