Jacques Samuel Beckmann

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy

The paper curates 31 genes associated with limb girdle muscular dystrophy (LGMD) using an expert panel and clinical validity framework, identifying 35 gene-disease relationships with varying levels of evidence.

A versatile and interoperable computational framework for the analysis and modeling of COVID-19 disease mechanisms

The paper presents a computational framework for analyzing SARS-CoV-2-host interactions to identify drug targets and model disease mechanisms.

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

The paper introduces the GA4GH Phenopacket schema to standardize the exchange of phenotypic data for precision medicine applications.

Genome-wide association study identifies 48 common genetic variants associated with handedness.

This study identifies 48 genetic variants associated with handedness using a large GWAS, highlighting polygenic nature and genetic links to neuropsychiatric traits.

A harmonized meta-knowledgebase of clinical interpretations of cancer genomic variants

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