Abstract
Next-generation sequencing (NGS) has improved efficiency and increased sensitivity of genetic testing, making it possible to detect variants present at lower allele fraction, referred to as mosaic. For some syndromic genes such as NF1, constitutional mosaicism is a well-known phenomenon associated with segmental, unilateral, and/or less-severe disease. Within the context of hereditary cancer testing, however, the majority of mosaic variants are likely limited to blood and/or blood precursor cells.
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