Claude Férec

This paper proposes a context-dependent framework for variant interpretation by analyzing LPL loss-of-function variants, showing how residual activity levels influence clinical outcomes.

The paper examines GT>GC 5' splice-site variants, showing they can retain wild-type transcript and challenge variant classification.

The paper identifies tissue-specific cis-regulatory elements (CREs) for the CFTR gene in pancreatic and intestinal cells using 3D genomic analysis and functional assays.

SURFBAT approximates transmission-disequilibrium tests using imputed haplotypes to detect genotype-phenotype associations while being robust to population stratification.

The paper identifies a novel disease mechanism where an Alu insertion forms dsRNA structures with pre-existing intronic Alu elements, leading to reduced SPINK1 mRNA expression.

The paper combines full-length gene splicing assay and SpliceAI to analyze splicing effects of SPINK1 coding variants, finding less than 2% of variants significantly impact splicing.

The paper evaluates whether using a local reference panel improves imputation accuracy in French individuals compared to a public reference panel, showing benefits of combining both approaches.

This paper introduces eRHDO, an enhanced method for non-invasive prenatal diagnosis of single-gene disorders, achieving high accuracy with no false positives or negatives.

The paper validates a seven-category variant classification system by testing its applicability across different Mendelian disease contexts and demonstrates its utility for variant interpretation and genetic counseling.

The paper proposes a new variant classification framework for chronic pancreatitis, introducing new categories to better classify variants in disease-causing and predisposing genes.

The paper analyzes genetic structure in Brittany and the Loire basin to understand Western Europe's demographic history, finding increased population differentiation linked to steppe and Neolithic ancestry.

Whole-genome sequencing in thousands of families reveals variants relevant to simplex autism in a brain enhancer of the well-established neurodevelopmental disorder gene EBF3.

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.

The paper identifies p.Arg90Leu as a variant in CELA3B associated with chronic pancreatitis, reverting to an ancestral allele and confirming CELA3B's role in CP etiology.

The paper compares the functionality and pathogenicity of 5' splice site GC>GT and GT>GC variants using a meta-analysis and functional assay, finding that GC>GT variants are largely non-pathogenic.

The paper evaluates SpliceAI's performance in predicting the functional impact of GT>GC 5' splice site variants using experimental data and finds it is not fully accurate.

The paper identifies rare STIM1 coding variants enriched in chronic pancreatitis patients compared to controls, suggesting a potential genetic association.

The paper estimates that 15-18% of canonical GT 5' splice sites can generate wild-type transcripts when mutated to GC, with implications for disease and splicing mechanisms.

This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.