Clinical relevance of mosaic variants detected by exome sequencing - PubMed
5 hours ago
- #Immune Disorders
- #Mosaicism
- #Genetic Diagnosis
- Mosaic variants contribute to human diseases like cancer and immune disorders but are underrecognized.
- Exome sequencing in 2655 participants revealed mosaic variants in 1.4% of affected individuals, aiding molecular diagnosis.
- 34% of diagnostic mosaic variants were missed by standard germline analysis due to low variant allele fractions (VAFs).
- Parental mosaicism was found in two families, highlighting inheritance implications.
- Mosaic variants were enriched in clonal hematopoiesis-related genes, influenced by age and GATA2 deficiency.
- Chemotherapy resistance variants in NRAS, KRAS, and IDH2 were identified, suggesting treatment strategy adjustments.
- Mosaic variants have significant diagnostic and prognostic value in immune and hematological disorders.