Catherine Reeves

TL;DR: It is shown that some ccRCCs are HIF-2 independent, and set the stage for biomarker-driven clinical trials, using a tumourgraft/patient-derived xenograft platform to evaluate PT2399, a selective Hif-2 antagonist that was identified using a structure-based design approach.

TL;DR: A scalable pipeline is used to map and characterize structural variants in 17,795 deeply sequenced human genomes to create the largest, to the authors' knowledge, whole-genome-sequencing-based structural variant resource so far and infer the dosage sensitivity of genes and noncoding elements.

TL;DR: The results imply that rare variants, in particular those in regions of low linkage disequilibrium, are a major source of the still missing heritability of complex traits and disease.

TL;DR: PGBD5 is defined as an oncogenic mutator and provide a plausible mechanism for site-specific DNA rearrangements in childhood and adult solid tumors.

TL;DR: A cloud-based pipeline is used to map and characterize SV in 17,795 deeply sequenced human genomes from common disease trait mapping studies and exploit this resource to infer the dosage sensitivity of genes and non-coding elements, revealing strong trends related to regulatory element class, conservation and cell-type specificity.