Exome sequencing can misread high variant allele fraction of somatic variants in

HIGHLIGHTS

• who: Matheus V. M. B. Wilke from the Department of Clinical Genomics, Mayo Clinic, First St SW, Rochester, MN, USA have published the research: Exome sequencing can misread high variant allele fraction of somatic variants in, in the Journal: (JOURNAL)
• what: The authors report on an individual with the phenotype of VEXAS syndrome initially identified as having an apparent hemizygous germline variant in UBA1 due to high variant allele frequency (VAF) in a clinical exome sequencing (ES).

SUMMARY

VEXAS syndrome (vacuoles, E1 enzyme, X linked, autoinflammatory, somatic syndrome) is a recently . . .

 



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