Laure Raymond

Clinical Evaluation of an AI System for Streamlined Variant Interpretation in Genetic Testing

DiagAI, a machine-learning system, improves variant interpretation in genetic testing by prioritizing causal variants, outperforming existing tools with higher diagnostic yield and shorter variant shortlists.

Complete pharmacogenomic profile from exome sequencing

This paper presents a method to derive a complete pharmacogenomic profile from exome sequencing data, validated against multiple reference assays.

Exome sequencing as a first-tier test for copy number variant detection : retrospective evaluation and prospective screening in 2418 cases.

This paper evaluates exome sequencing as an alternative to chromosomal microarray for detecting copy number variants in rare disorders, showing improved diagnostic yield in prospective cases.

An intermediate effect size variant in UMOD confers risk for chronic kidney disease

The paper identifies an intermediate-effect variant in UMOD associated with chronic kidney disease risk and shows it has reduced disease severity compared to canonical ADTKD mutations.

Genome Alert!: a standardized procedure for genomic variant reinterpretation and automated genotype-phenotype reassessment in clinical routine

Genome Alert! automatically detects changes in variant classifications and gene-disease associations over time, improving clinical interpretation of genomic data with minimal human effort.