Public articles linked to the same research event.
medRxiv Using AlphaGenome and AlphaMissense to quantify the disruption imposed by somatic mutations across 8,800 patients and 33 cancer types from The Cancer Genome Atlas, this study found that recurrent hotspot mutations showed substantially larger predicted protein-level effects while non-hotspot mutations exhibited larger regulatory effects across most cancer types; aggregating variant-level predictions into patient-gene disruption profiles capturing transcriptional activity, chromatin accessibility, transcription factor binding, and splicing yielded gene- and modality-specific profiles that reflected tissue of origin, cancer type, and microsatellite-instability status while retaining information beyond tumor mutational burden; among patients lacking recurrent hotspot mutations, higher predicte
Using AlphaGenome and AlphaMissense to quantify the disruption imposed by somatic mutations across 8,800 patients and 33 cancer types from The Cancer Genome Atlas, this study found that recurrent hotspot mutations showed substantially larger predicted protein-level effects while non-hotspot mutations exhibited larger regulatory effects across most cancer types; aggregating variant-level predictions into patient-gene disruption profiles capturing transcriptional activity, chromatin accessibility, transcription factor binding, and splicing yielded gene- and modality-specific profiles that reflected tissue of origin, cancer type, and microsatellite-instability status while retaining information beyond tumor mutational burden; among patients lacking recurrent hotspot mutations, higher predicte
Using AlphaGenome and AlphaMissense to quantify the disruption imposed by somatic mutations across 8,800 patients and 33 cancer types from The Cancer Genome Atlas, this study found that recurrent hotspot mutations showed substantially larger predicted protein-level effects while non-hotspot mutations exhibited larger regulatory effects across most cancer types; aggregating variant-level predictions into patient-gene disruption profiles capturing transcriptional activity, chromatin accessibility, transcription factor binding, and splicing yielded gene- and modality-specific profiles that reflected tissue of origin, cancer type, and microsatellite-instability status while retaining information beyond tumor mutational burden; among patients lacking recurrent hotspot mutations, higher predicte
Using AlphaGenome and AlphaMissense to quantify the disruption imposed by somatic mutations across 8,800 patients and 33 cancer types from The Cancer Genome Atlas, this study found that recurrent hotspot mutations showed substantially larger predicted protein-level effects while non-hotspot mutations exhibited larger regulatory effects across most cancer types; aggregating variant-level predictions into patient-gene disruption profiles capturing transcriptional activity, chromatin accessibility, transcription factor binding, and splicing yielded gene- and modality-specific profiles that reflected tissue of origin, cancer type, and microsatellite-instability status while retaining information beyond tumor mutational burden; among patients lacking recurrent hotspot mutations, higher predicte