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Saturation genome editing of BARD1 variants resolves 95% of variants of uncertain significance, linking functional effects to cancer risk with high accuracy (AUC=0.99). Uncover the science behind it: www.medrxiv.org/content/10.1...
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BARD1 variants are associated with hereditary breast cancer and neuroblastoma, yet, 98% of missense variants remain variants of uncertain significance (VUS). We applied Saturation Genome Editing (SGE)...
www.medrxiv.org
Saturation genome editing of BARD1 resolves VUS and provides insight into BRCA1-BARD1 tumor suppression
Impact of Genomic Variation on Function