Joel B. Krier

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

AnFiSA is an open-source platform for analyzing sequencing data in rare genetic disease, addressing reproducibility, adaptability, and explainability in genomic analysis.

The paper identifies rare variants in the complement system associated with severe sepsis with coagulopathy using pathway-based analysis of whole exome sequencing data.

This study evaluates the feasibility and costs of returning actionable genomic results from a biobank, finding high false positive rates in genotyping and significant under-testing among at-risk individuals.

AMELIE 3 automatically reanalyzes undiagnosed Mendelian disease patients using new literature, achieving 80% diagnostic yield with 0.5-1 alerts per patient per year.