Biology subjects

Poirier-Morency, G.

Publications and source records attributed to Poirier-Morency, G..

3 recordsLinked to original sources

bioRxiv2025

Persistent hindrances to data re-use in single-cell genomics

We report on our experience attempting to re-use published and publicly available single-cell (or single-nucleus) RNA-sequencing studies (scRNA-seq) from the Gene Expression Omnibus (GEO). We screened GEO for human, mouse and rat scRNA-seq studies as potential candidates for inclusion in the Gemma database of re-annotated and re-analyzed transcriptome studies. Using semi-automated and manual curation, we assessed whether GEO datasets included cell-level expression count matrices and cell-type annotations. We found that there are steep challenges to data reuse. Only [~]40% of studies provided readily usable processed count data that could be reliably mapped to GEO metadata, and fewer than 10% included author-provided cell-type annotations. While raw sequencing data were available for the majority of studies, only a small proportion could be re-analyzed automatically without reliance on heuristics. Our findings show that existing practices for single-cell RNA-sequencing data distribution and sharing are insufficient for effective reuse, and highlight the urgent need for repositories to strengthen and enforce submission requirements, particularly for processed data and cell-type annotations.

genomics↗

bioRxiv2021

ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

Next-generation sequencing is a prevalent diagnostic tool for undiagnosed diseases, and has played a significant role in rare disease gene discovery. While this technology resolves some cases, others are given a list of possibly damaging genetic variants necessitating functional studies. Productive collaborations between scientists, clinicians, and patients can help resolve such medical mysteries, and provide insights into in vivo function of human genes. Furthermore, facilitating interactions between scientists and research funders, including non-profit organizations or commercial entities, can dramatically reduce the time to translate discoveries from bench to bedside. Several systems designed to connect clinicians and researchers with a shared gene of interest have been successful. However, these platforms exclude some stakeholders based on their role or geography. Here we describe ModelMatcher, a global online matchmaking tool designed to facilitate cross-disciplinary collaborations, especially between scientists and other stakeholders of rare and undiagnosed disease research. ModelMatcher is integrated into the Rare Diseases Models and Mechanisms Network and Matchmaker Exchange, allowing users to identify potential collaborators in other registries. This living database decreases the time from when a scientist or clinician is making discoveries regarding their genes of interest, to when they identify collaborators and sponsors to facilitate translational and therapeutic research.

genetics↗

bioRxiv2020

Curation of over 10,000 transcriptomic studies to enable data reuse

Vast amounts of transcriptomic data reside in public repositories, but effective reuse remains challenging. Issues include unstructured dataset metadata, inconsistent data processing and quality control, and inconsistent probe-gene mappings across microarray technologies. Thus, extensive curation and data reprocessing is necessary prior to any reuse. The Gemma bioinformatics system was created to help address these issues. Gemma consists of a database of curated transcriptomic datasets, analytical software, a web interface, and web services. Here we present an update on Gemmas holdings, data processing and analysis pipelines, our curation guidelines, and software features. As of June 2020, Gemma contains 10,811 manually curated datasets (primarily human, mouse, and rat), over 395,000 samples and hundreds of curated transcriptomic platforms (both microarray and RNA-sequencing). Dataset topics were represented with 10,215 distinct terms from 12 ontologies, for a total of 54,316 topic annotations (mean topics/dataset = 5.2). While Gemma has broad coverage of conditions and tissues, it captures a large majority of available brain-related datasets, accounting for 34% of its holdings. Users can access the curated data and differential expression analyses through the Gemma website, RESTful service, and an R package. Database URL: https://gemma.msl.ubc.ca/home.html

bioinformatics↗