However, the ACMG recommendations currently apply only to SNVs and indels, so this additional variation—some of which may be significant—would not be considered under the current guidelines. 1 Based on this experience, we suggest that clinicians and researchers interested in returning incidental variants found by next-generation sequencing adopt a uniform, well-defined set of criteria for variant classification.
← all excerpts
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.
1
—
—