Nelly Oliver

TL;DR: In this paper, a software called ichorCNA was proposed to quantitatively measure tumor content in cfDNA from 0.1× coverage whole-genome sequencing data without prior knowledge of tumor mutations.

TL;DR: The authors provide methods to identify patients eligible for comprehensive cfDNA profiling, revealing its applicability to many patients, and demonstrate high concordance of cfDNA and metastatic tumor whole-exome sequencing.

TL;DR: Using an integrated multidisciplinary biopsy program, it is demonstrated that real-time genomic characterization of advanced PDAC can identify clinically relevant alterations that inform management of this difficult disease.

TL;DR: Activating HER2 mutations are shown to confer resistance to ER-directed therapies in patients with ER+ metastatic breast cancer, and these mutations conferred estrogen independence as well as resistance to tamoxifen, fulvestrant and the CDK4 and CDK6 inhibitor palbociclib.

TL;DR: The CSER consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing.