Pierre‐Emmanuel Morange

Genomic Evidence Links Inflammation to Residual Pulmonary Vascular Obstruction and Risk of Pulmonary Embolism Recurrence

This study identifies genetic loci associated with residual pulmonary vascular obstruction and links inflammation to its risk, while showing limited role of impaired fibrinolysis.

Genomic Landscape of Thrombosis Recurrence Risk Across Venous Thromboembolism Subtypes

The paper identifies genetic loci and proteins associated with venous thromboembolism recurrence risk using GWAS and subgroup analyses across different thrombotic subtypes.

Multi-ancestry polygenic risk scores for venous thromboembolism

This study develops multi-ancestry polygenic risk scores for venous thromboembolism using diverse GWAS data and shows improved predictive performance across European- and African-ancestry populations.

A genome wide search for non-additive allele effects identifies PSKH2 as involved in the variability of Factor V activity.

The paper identifies PSKH2 as a gene influencing variability in Factor V plasma activity through genome-wide analysis of non-additive allele effects.

Antithrombin, protein C and protein S: Genome and transcriptome wide association studies identify 7 novel loci regulating plasma levels

Single-cell analysis of megakaryopoiesis in peripheral CD34+ cells: insights into ETV6-related thrombocytopenia

This study uses single-cell RNA sequencing to analyze megakaryopoiesis in CD34+ cells from healthy individuals and ETV6-related thrombocytopenia patients, identifying distinct cell stages and ETV6-related defects in differentiation.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with critical COVID-19

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.

Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors

This study identifies 135 genomic loci associated with venous thromboembolism risk through cross-ancestry GWAS and provides insights into biological pathways and potential therapeutic targets.

Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score

RAVA-FIRST improves rare variant association testing in whole-genome data by using functionally-informed testing units and filtering, identifying a novel intergenic region linked to venous thromboembolism.

An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism.

Long-read sequencing resolves structural variants in SERPINC1 causing antithrombin deficiency and identifies a complex rearrangement and a retrotransposon insertion not characterized by routine diagnostic methods

This study uses long-read sequencing to identify and characterize structural variants in antithrombin deficiency cases that routine methods missed.

A novel rare c. -39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon and inhibiting the production of the natural protein.

MORFEE: a new tool for detecting and annotating single nucleotide variants creating premature ATG codons from VCF files

MORFEE identifies and annotates single nucleotide variants in 5UTR regions that create upstream open reading frames (uORFs) from VCF files, aiding in interpreting genetic association signals and disease mechanisms.

OPTIMIR, a novel algorithm for integrating available genome-wide genotype data into miRNA sequence alignment analysis.

OPTIMIR improves miRNA alignment accuracy by integrating genotype data and biological knowledge on miRNA editing in human plasma samples.