It does this by creating the world's first comprehensive functional variant database solely dedicated to resolving variants of unknown significance (VUS) in genetic tests.
Jungla– Jungla claims to be the world's best predictor for variants of unknown significance in the genome, starting with cancers by combining machine learning with proprietary protein function maps.
Jungla– Marrying the power of machine learning with proprietary protein function maps, Jungla is the world's best predictor for variants of unknown significance in the genome starting with cancers.
Twenty-seven new variants of unknown significance, 21 disease-causing variants, and two CNVs were detected among the 176 patient samples analyzed in diagnosis routine.
"There were no variants of unknown significance detected in BRCA, but a variant of unknown significance was detected in CHEK2," she tells me.
These include indication for testing, array design, interpretation of variants and how to deal with variants of unknown significance and incidental findings.
Compared to traditional methods, NGS is more effective in revealing possibly causal variants, but counseling patients becomes more complicated due to frequent variants of unknown significance and potentially oligogenic cases.
Nonetheless, in the absence of a second mutation, these cannot be described as pathogenic, thus we decided to classify these as variants of unknown pathogenicity.
In addition, four variants of unknown effect were found.
These were regarded as monoallelic variants of unknown significance.
Myriad reports a 3% rate of BRCA variants of unknown significance, whereas European BRCA testing services report a 20% rate of variants of unknown significance.
