Second, it established the value or weight of each piece of evidence and how to combine them to reach one of five classification tiers: pathogenic, likely pathogenic, variant of uncertain significance ...

“These findings demonstrate the value of collaborative research in advancing our understanding of BRCA2 variants, improving classification methods that support more accurate risk assessments and ...

Among the variants with an initial classification as benign or pathogenic, about 95% remained in their original category. In contrast, 41% of the VUS deposited in ClinVar and 61% of those in LOVD ...

AI and its potential impact on genomics research and clinical practice was peppered throughout this year's Festival of Genomics ...

In contrast to models trained exclusively on human reference genome, Mayo’s genomic foundation model demonstrates significantly better results on genomic variant classification because it was ...