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Torchet, R.

Publications and source records attributed to Torchet, R..

3 recordsLinked to original sources

Trait selection strategy in multi-trait GWAS: Boosting SNPs discoverability

Since the first Genome-Wide Association Studies (GWAS), thousands of variant-trait associations have been discovered. However, the sample size required to detect additional variants using standard univariate association screening is increasingly prohibitive. Multi-trait GWAS offers a relevant alternative: it can improve statistical power and lead to new insights about gene function and the joint genetic architecture of human phenotypes. Although many methodological hurdles of multi-trait testing have been discussed, the strategy to select trait, among overwhelming possibilities, has been overlooked. In this study, we conducted extensive multi-trait tests using JASS (Joint Analysis of Summary Statistics) and assessed which genetic features of the analysed sets were associated with anincreased detection of variants as compared to univariate screening. Our analyses identified multiple factors associated with the gain in the association detection in multi-trait tests. Together, these factors of the analysed sets are predictive of the gain of the multi-trait test (Pearsons {rho} equal to 0.43 between the observed and predicted gain, P < 1.6 x 10-60). Applying an alternative multi-trait approach (MTAG, multi-trait analysis of GWAS), we found that in most scenarios but particularly those with larger numbers of traits, JASS outperformed MTAG. Finally, we benchmark several strategies to select set of traits including the prevalent strategy of selecting clinically similar traits, which systematically underperformed selecting clinically heterogenous traits or selecting sets that issued from our data-driven models. This work provides a unique picture of the determinant of multi-trait GWAS statistical power and outline practical strategies for multi-trait testing.

genetics↗

HARIBOSS: a curated database of RNA-small molecules structures to aid rational drug design

RNA molecules are implicated in numerous fundamental biological processes and many human pathologies, such as cancer, neurodegenerative disorders, muscular diseases, and bacterial infections. Modulating the mode of action of disease-implicated RNA molecules can lead to the discovery of new therapeutical agents and even address pathologies linked to 8undruggable9 protein targets. This modulation can be achieved by direct targeting of RNA with small molecules. As of today, only a few RNA-targeting small molecules are used clinically. One of the main obstacles that has hampered the development of a rational drug design protocol to target RNA with small molecules is the lack of a comprehensive understanding of the molecular mechanisms at the basis of RNA-small molecule recognition. Here, we present HARIBOSS, a curated collection of RNA-small molecule structures determined by X-ray crystallography, Nuclear Magnetic Resonance spectroscopy and cryo-electron microscopy. HARIBOSS facilitates the exploration of drug-like compounds known to bind RNA, the analysis of ligands and pockets properties, and ultimately the development of in silico strategies to identify RNA-targeting small molecules. HARIBOSS can be explored via a web interface available at http://hariboss.pasteur.cloud.

bioinformatics↗

Gender-based disparities and biases in science: observational study of a virtual conference

Success in STEM (Science, Technology, Engineering, and Math) remains influenced by race, gender, and socioeconomic status. Here, we focus on the impact of gender on question-asking behavior during the 2021 JOBIM virtual conference (Journees Ouvertes en Biologie et Mathematiques). We gathered quantitative and qualitative data including : demographic information, question asking motivations, live observations and interviews of participants. Quantitative analyses include unprecedented figures such as the fraction of the audience identifying as LGBTQIA+ and an increased attendance of women in virtual conferences. Although parity was reached in the audience, women asked half as many questions as men. This under-representation persisted after accounting for seniority of the asker. Interviews of participants highlighted several barriers to oral expression encountered by women and gender minorities : negative reactions to their speech, discouragement to pursue a career in research, and gender discrimination/sexual harassment. Informed by the study, guidelines for conference organizers have been written.

scientific communication and education↗