These include indication for testing, array design, interpretation of variants and how to deal with variants of unknown significance and incidental findings.
While there are enormous challenges, mostly relating to interpretation of variants, the value of a genetic diagnosis should not be underestimated.
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.
clinical interpretation of variants in cancer.
Consistent clinical interpretation of variants is required.
Fourth, WGS50 utilized manual manipulation of spreadsheets for analysis and interpretation of variants.
The biggest limitation for medical WGS and exome sequencing, however, is the interpretation of variants of uncertain significance (VUS).
There is an existing urgent need for systematic guidance to aid the consistent clinical interpretation of variants.
A recent study demonstrates the power of Bayesian statistical approaches to improve interpretation of variants in the context of specific genes and syndromes.
These false-negatives come not only from the conservative interpretation of variants but also from the technical limitations of next-generation sequencing platforms.
