Laure Frésard

The paper develops a machine learning platform to improve variant classification, reducing VUS rates and improving concordance with ClinVar submissions.

This study systematically tests HMBS missense variants to determine their functional impact and distinguish pathogenic from benign variants.

SPEER identifies abnormal mRNA splicing and assesses its clinical impact in hereditary cancer syndrome genetic testing, reclassifying variants of uncertain significance.

The paper maps regulatory effects of human disease variants in pluripotent cells, identifying cis- and trans-QTL across 18,556 genes and linking them to GWAS traits.

The paper uses single-cell epigenomic data to identify functional SNPs associated with Alzheimer's and Parkinson's disease, revealing novel gene-disease associations and regulatory mechanisms.

The paper presents a large ASE resource from GTEx v8 with 431 million SNP-level and 153 million haplotype-level measurements, and extends phASER to estimate cis regulatory variant effect sizes.

The paper uses bulk RNA-seq data to estimate cell type abundances and identifies cell type interaction QTLs that provide finer resolution of tissue specificity than bulk cis-eQTLs.

The paper examines telomere length variation across 6,391 tissue samples from 952 individuals, showing tissue-specific differences, positive correlations between tissues, and associations with age and ancestry.

Integrating expression, allelic expression and splicing across tissues identifies rare variants with relevance to traits.

The paper quantifies protein levels across 32 human tissues and compares them to transcriptome data, revealing insights into post-transcriptional regulation and disease mechanisms.

GTEx v8 maps expression and splicing QTLs in 49 tissues from 838 donors: cis-eQTLs cover 94.7% of protein-coding genes, and cross-tissue QTL sharing mirrors cell-type composition.

This study evaluates the use of whole blood transcriptome sequencing for diagnosing rare diseases, finding an 8.5% diagnostic rate across 56 undiagnosed cases.

The paper develops S-PrediXcan to compute gene expression associations from GWAS summary data and applies it to 44 GTEx tissues and 100+ phenotypes, finding tissue-specific effects and colocalized associations.

The paper uses long-read whole genome sequencing to identify a pathogenic structural variant in a patient with Carney complex, demonstrating the potential of LRS in diagnosing Mendelian diseases.