Skip to main content
Fig. 1 | Human Genomics

Fig. 1

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

Fig. 1

Clonal expansion in Clonal Hematopoiesis of Indeterminate Potential. A Somatic driver mutation acquired by a hematopoietic stem cell leads to clonal expansion in the peripheral blood. The mutant clone becomes more abundant in the blood samples, taken as the source of DNA for sequencing. B Allelic imbalance as seen in the Integrative Genomic Viewer [37], compared with the examples of true homozygosity and heterozygosity. Recent studies [7, 15] showed that allelic imbalance can be used as an indicator of variant somatic origin

Back to article page

Human Genomics

ISSN: 1479-7364