Oliver Hofmann

The paper introduces a standard for unambiguously representing, retrieving, and comparing reference genomes and transcriptomes, revealing inconsistencies across 60 human and 36 mouse references.

RNAsum integrates WGS and WTS data to improve cancer diagnostics by corroborating clinically relevant variants and supporting therapeutic decisions.

CPSR generates structured reports of germline variants in cancer predisposition genes using ACMG criteria, with customizable gene panels and actionable findings.

The paper introduces refget, an API for standardized access to reference sequences using identifiers derived from the sequences themselves.

Arteria provides an automation system for sequencing core facilities using modular, open-source micro-services.

The paper describes the PCAWG project's large-scale analysis of cancer whole genomes across multiple computing environments, producing validated consensus variants for downstream research.

The paper introduces a tiered prioritisation approach to identify high-impact gene fusions in cancer genomes by improving variant annotation, interpretation, and visualisation.