Yuya Kobayashi

TL;DR: Sherloc builds on the strong framework of 33 rules established by the ACMG–AMP guidelines and introduces 108 detailed refinements, which support a more consistent and transparent approach to variant classification.

TL;DR: Results suggest that multiple-gene sequencing may benefit appropriately selected patients, and additional studies are required to quantify the penetrance of identified mutations and determine clinical utility.

TL;DR: In a clinically representative cohort, multigene panel testing for HBOC risk assessment yielded findings likely to change clinical management for substantially more patients than does BRCA1/2 testing alone.

TL;DR: This study quantitatively profiled 95 primary prostate tumors and 86 benign adjacent prostate tissue samples for their DNA methylation levels at 26,333 CpGs representing 14,104 gene promoters by using the Illumina HumanMethylation27 platform and identified 87CpGs that are the most predictive diagnostic methylation biomarkers of prostate cancer.

TL;DR: The observations made in this study suggest that, with certain caveats, a very low allele frequency threshold can be adopted to more accurately interpret sequence variants.