Andrea Sboner

EXaCT-2 is a whole exome sequencing platform that detects various cancer-related genomic features with high accuracy and sensitivity, outperforming standard assays in detecting sub-clonal mutations and molecular metrics.

The paper identifies genomic alterations in the YAP/TAZ pathway associated with stem cell-like castration-resistant prostate cancer using transcriptomic and whole-genome sequencing data.

This study develops a pan-cancer PDO platform to preserve tumor heterogeneity and identify therapeutic vulnerabilities, finding that 58% of PDOs respond to Talazoparib and combination screens reveal resistance-overcoming drugs.

The paper uses CRISPR-Cas9 screens in breast cancer organoids from African ancestry patients to identify essential kinases and show synergy between EGFR and FGFR1 inhibitors.

This study identifies canonical AREs as tumor suppressive regulatory elements in prostate cancer, showing their reactivation can induce death in AR+ cancer cells and is linked to better prognosis.

The paper analyzes whole-genome sequencing data from a pan-cancer cohort to define HRD, showing it extends beyond BRCA1/2 mutations and highlights the benefits of WGS over commercial assays for HRD detection.

This study examines how mutagenesis and extrachromosomal DNA contribute to urothelial cancer evolution, revealing clonal APOBEC3 mutations and chemotherapy-induced mutational bursts within ecDNA.

This study shows that APOBEC3G drives mutagenesis and clonal evolution in bladder cancer, contributing to mutational profiles in multiple cancer types.

The paper identifies three novel complex structural variation patterns in cancer genomes using genome graph analysis across 2,833 tumor WGS.

This study identifies molecular subgroups of BPH and suggests mTOR inhibitors as a potential therapy for specific subtypes.

This study reports that 17% of advanced cancer patients have clinically relevant germline variants, with higher rates of cancer-associated variants compared to control cohorts.

The paper introduces PMKB, a platform for collaborative editing and sharing of clinical-grade cancer mutation interpretations, and reports its usage in genomic testing.