Sentence examples for interpretation of variants from inspiring English sources

clinical interpretation of variants in cancer.

While there are enormous challenges, mostly relating to interpretation of variants, the value of a genetic diagnosis should not be underestimated.

These include indication for testing, array design, interpretation of variants and how to deal with variants of unknown significance and incidental findings.

These software systems must not only manage the deluge of data generated by NGS technologies, but also be able to analyze this information to identify, annotate, classify, and support the interpretation of variants.

Consistent clinical interpretation of variants is required.

Fourth, WGS50 utilized manual manipulation of spreadsheets for analysis and interpretation of variants.

This indicates that sequencing AZFc in different haplogroups may yield crucial information on the evolution and functional specialization of amplicon gene copies and that clinical use of SFVs requires previous characterization of the sequence conversion profiles present in the sampled population to avoid erroneous interpretation of variant losses.

The major challenge in the diagnostic testing of BRCA genes concerns the interpretation of unknown variants, the so-called "variants of uncertain significance" (VUS).

The interpretation of mitochondrial variants other than well-established pathogenic variants is complex and remains challenging and has several special considerations which are addressed here.

This software application renders interpretations of variant effects in a more practical, useful way than the corresponding table of supplemental data (Supplemental Table 10).

To pursue unresolved issues from the previous WGS study that included unconfirmed variant calls and the challenging interpretation of incidental variants, we further tested the subject's DNA with the latest version of ES methods.