Robert Olaso

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.

Genetic introgression and transcriptomic plasticity are associated with enhanced Leishmania infantum pathogenicity causing human cutaneous leishmaniasis in Tunisia

The paper identifies hybridization between Leishmania species as a driver of pathogenicity shift in Leishmania infantum causing cutaneous leishmaniasis.

Unraveling the potential of short and long read sequencing for human genome profiling

This study compares short and long read sequencing technologies for human genome profiling, finding they are equivalent for SNVs but long reads excel in structural variants and haplotype phasing.

Impact of ABO blood groups on residual pulmonary vascular obstruction in patients with unprovoked pulmonary embolism

This study investigates the association between ABO blood groups and residual pulmonary vascular obstruction in patients with unprovoked pulmonary embolism but finds no significant link.

Neoantigenic properties of TP53 variants modify cancer risk in individuals with Li-Fraumeni syndrome

The paper analyzes how neoantigenic properties of TP53 variants correlate with cancer risk and presentation in Li-Fraumeni syndrome carriers.

LEAP-InovAND a multiscale resource to explore genetics, brain imaging and clinical data in autism

The paper introduces a multiscale resource integrating genetics, brain imaging, and clinical data from autistic individuals and their relatives to explore genetic and neurobiological patterns in autism.

SURFBAT: a surrogate family-based association test building on large imputation reference panels

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

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.

Exome analysis of 22,319 individuals links extremely rare CNVs and 22q11.21 dosage to Alzheimer's risk

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.

Genome sequences of four Ixodes species expands understanding of tick evolution

The paper presents genome sequences of four Ixodes species, revealing gene family amplifications and evolutionary patterns in ticks.

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.

Can imputation in a European country be improved by local reference panels? The example of France

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.

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.

Genetic analysis of lung cancer reveals novel susceptibility loci and germline impact on somatic mutation burden

This study identifies eight novel lung cancer susceptibility loci and shows that germline variants related to smoking and DNA repair influence somatic mutation burden in lung tumors.

Reactive astrocytes promote proteostasis in Huntington disease through the JAK2-STAT3 pathway

This study shows that activating the JAK2-STAT3 pathway in astrocytes reduces mutant Huntingtin aggregates and improves disease outcomes in Huntington's disease models.

Genetic population structure across Brittany and the downstream Loire basin provides new insights on the demographic history of Western Europe

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.

ContaTester: Fast cross-contamination estimation and identification for large human sequencing cohorts

ContaTester estimates cross-contamination in human DNA samples using VCF files, offering fast and efficient contamination detection for large cohorts.

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

Penetrance estimation of SORL1 loss-of-function variants using a family-based strategy adjusted on APOE genotypes suggest a non-monogenic inheritance

The paper estimates the penetrance of SORL1 loss-of-function variants in Alzheimer's disease using a family-based survival model adjusted for APOE genotypes, finding high penetrance only in APOE-ε4ε4 carriers.

Evaluation of saliva as a source of accurate whole-genome and microbiome sequencing data

This study evaluates saliva as a source for whole-genome and microbiome sequencing by comparing it to blood-based sequencing in 39 individuals.

Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23

This study performs a large GWAS on dilated cardiomyopathy, identifying two new loci and confirming two existing ones, with potential therapeutic implications.

The H2A.J histone variant contributes to Interferon-Stimulated Gene expression in senescence by its weak interaction with H1 and the derepression of repeated DNA sequences

This study identifies H2A.J's role in promoting ISG expression during senescence through its interaction with H1 and derepression of repeated DNA sequences.

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.

A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families

Comprehensive analysis of RNA-seq kits for standard, low and ultra-low quantity samples

This study evaluates three RNA-seq library preparation kits for different input quantities and RNA types, showing TruSeq performs best at 100 ng, SMARTer at <1 ng, and SMARTer Ultra-Low for ultra-low inputs.