Alexandre Bolze

Population genomic screening identified familial hypercholesterolemia patients, leading to improved lipid-lowering therapies and LDL-C reductions.

This paper introduces a method to reclassify variants of uncertain significance using real-world evidence from large-scale datasets, significantly improving variant interpretation.

This study assesses the cancer risk associated with PMS2 pathogenic variants in the general population and finds low clinical utility for genomic screening.

This paper develops a method to predict Lp(a) levels from genomic data, combining SNV risk scores and KIV-2 repeat counts, and shows it improves risk prediction for cardiovascular disease in diverse populations.

This study evaluates genetic screening approaches for breast cancer risk, finding that combining rare and common variants improves risk stratification.

The paper identifies GCK variant carriers at increased risk for T2D and its complications, despite their glucose elevations not meeting standard T2D criteria.

The paper investigates the impact of hypertension on the positive predictive value (PPV) for polycystic kidney disease in carriers of PKD1 and PKD2 variants.

The paper identifies rare loss-of-function variants in type I IFN immunity genes associated with severe COVID-19, particularly in younger patients with recessive inheritance.

The paper introduces Power Window, a method to identify clinically impactful regions of genes using population-scale datasets, showing improved accuracy in variant effect prediction.

The paper uses symptom-based case predictions to conduct a GWAS on COVID-19, finding new genetic susceptibility insights and suggesting different genetic architectures for severity and susceptibility.

Allele frequencies for homoplasmic and heteroplasmic mitochondrial variants across 195,983 sequenced genomes leave 47% of the mitochondrial genome invariant and put 42% of reported LHON variants in doubt.

The paper analyzes >200,000 exomes to identify ACE2 gene variants that may affect SARS-CoV-2 interaction and loss of function intolerance.

The paper finds that 90% of carriers of inherited disease variants are missed in current medical practice, highlighting the need for population-based genetic screening.

The paper reports new RPSA mutations causing isolated congenital asplenia, including 5-UTR mutations and incomplete penetrance in some cases.

This study compares whole-genome sequencing (WGS) and whole-exome sequencing (WES) in six individuals, finding WGS more effective at detecting coding variants, particularly SNVs, with fewer false positives.