Brian Walsh

The paper explores using FHIR to integrate genomic research data from multiple repositories and evaluates its effectiveness for structured data representation and aggregation.

The paper evaluates challenges in genomic variant representation across resources and develops normalization methods to improve clinical outcome associations.

recountmethylation provides processed blood DNA methylation data and analysis tools, showing genetic ancestry and cell fractions explain most DNAm variation and validating DMPs between sexes.

The paper describes AnVIL, a cloud-based platform that enables genomic data analysis without data transfer, improving security, scalability, and collaboration.

The paper introduces the GA4GH Variation Representation Specification (VRS), a framework for precise and federated representation of molecular variation, with a reference implementation and community resources available online.

The paper harmonizes clinical interpretations of cancer genomic variants across six knowledgebases, improving overlap and matching with patient cohorts.