Laure Frésard
A5008875424- RNA Research and Splicing
- Genomics and Rare Diseases
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Genetic Associations and Epidemiology
- RNA regulation and disease
- Single-cell and spatial transcriptomics
- Epigenetics and DNA Methylation
- RNA and protein synthesis mechanisms
- Genetic Mapping and Diversity in Plants and Animals
- Genomics and Chromatin Dynamics
- CRISPR and Genetic Engineering
- Animal Genetics and Reproduction
- Bioinformatics and Genomic Networks
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Congenital heart defects research
- Nutrition, Genetics, and Disease
- Birth, Development, and Health
- Genetic and phenotypic traits in livestock
- Genomics and Phylogenetic Studies
- Metabolism and Genetic Disorders
- Genetic Syndromes and Imprinting
- Molecular Biology Techniques and Applications
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
LabCorp (United States)
2025
Invitae (United States)
2022-2024
Yale University
2023
Stanford University
2015-2022
Stanford Medicine
2020-2021
Thermo Fisher Scientific (Sweden)
2020
Princeton University
2019
Génétique Physiologie et Systèmes d'Elevage
2014-2016
Université de Toulouse
2015
Institut National de la Recherche Agronomique
2014-2015
The Genotype-Tissue Expression (GTEx) project dissects how genetic variation affects gene expression and splicing.
Abstract Scalable, integrative methods to understand mechanisms that link genetic variants with phenotypes are needed. Here we derive a mathematical expression compute PrediXcan (a gene mapping approach) results using summary data (S-PrediXcan) and show its accuracy general robustness misspecified reference sets. We apply this framework 44 GTEx tissues 100+ from GWAS meta-analysis studies, creating growing public catalog of associations seeks capture the effects variation on human...
Many complex human phenotypes exhibit sex-differentiated characteristics. However, the molecular mechanisms underlying these differences remain largely unknown. We generated a catalog of sex in gene expression and genetic regulation across 44 tissue sources surveyed by Genotype-Tissue Expression project (GTEx, v8 release). demonstrate that influences levels cellular composition samples body. A total 37% all genes sex-biased at least one tissue. identify cis quantitative trait loci (eQTLs)...
Cell type composition, estimated from bulk tissue, maps the cellular specificity of genetic variants.
Telomere length within an individual varies in a correlated manner across most tissues.
PurposeCurrent clinical genomics assays primarily utilize short-read sequencing (SRS), but SRS has limited ability to evaluate repetitive regions and structural variants. Long-read (LRS) complementary strengths, we aimed determine whether LRS could offer a means identify overlooked genetic variation in patients undiagnosed by SRS.MethodsWe performed low-coverage genome variants patient who presented with multiple neoplasia cardiac myxomata, whom the results of targeted testing were...
Abstract The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues, and link these regulatory mechanisms trait disease associations. Here, we present analyses of v8 data, based 17,382 RNA-sequencing samples from 54 tissues 948 post-mortem donors. We comprehensively associations for gene expression splicing in cis trans , showing that are found almost all genes, describe underlying molecular their contribution...
Outliers in the human transcriptome reveal functional effects of rare genetic variants.
Abstract Allele expression (AE) analysis robustly measures cis -regulatory effects. Here, we present and demonstrate the utility of a vast AE resource generated from GTEx v8 release, containing 15,253 samples spanning 54 human tissues for total 431 million measurements at SNP level 153 haplotype level. In addition, develop an extension our tool phASER that allows effect sizes variants to be estimated using haplotype-level data. This is largest date, are able make data publicly available. We...
Editorial on the Research Topic Food safety in low-and middle-income countriesThis is first special edition food informal markets low-and-middle income countries (LMICs).Despite their important public health and socio-economic impacts, foodborne diseases have only recently gained attention of development institutes initiatives (Grace, 2023).The result growing appreciation enormous burden disease LMICs: comparable to that malaria, HIV/AIDs or tuberculosis economic cost more than 100 billion...
ATP synthase, H+ transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a of synthase and plays an important role in coupling proton translocation production. Here, we describe two individuals, each with homozygous missense variants ATP5F1D, who presented episodic lethargy, metabolic acidosis, 3-methylglutaconic aciduria, hyperammonemia. Subject 1, for c.245C>T (p.Pro82Leu), recurrent decompensation starting the neonatal period, subject 2, c.317T>G (p.Val106Gly),...
Genomic imprinting is an epigenetic mechanism by which alleles of some specific genes are expressed in a parent-of-origin manner. It has been observed mammals and marsupials, but not birds. Until now, only few orthologous to mammalian imprinted ones have analyzed chicken did demonstrate any evidence this species. However, several published observations such as imprinted-like QTL poultry or reciprocal effects keep the question open. Our main objective was thus screen entire genome for...
Abstract Expression quantitative trait locus (eQTL) mapping provides a powerful means to identify functional variants influencing gene expression and disease pathogenesis. We report the identification of cis-eQTLs from 7,051 post-mortem samples representing 44 tissues 449 individuals as part Genotype-Tissue (GTEx) project. find cis-eQTL for 88% all annotated protein-coding genes, with one-third having multiple independent effects. numerous tissue-specific cis-eQTLs, highlighting unique...