Publications by authors named "G Joris"
Article Synopsis
- A genomic database encompassing all eukaryotic species on Earth is crucial for scientific advancements, yet most species lack genomic data.
- The Earth BioGenome Project (EBP) was initiated in 2018 by global scientists to compile high-quality reference genomes for approximately 1.5 million recognized eukaryotic species.
- The European Reference Genome Atlas (ERGA) launched a Pilot Project to create a decentralized model for reference genome production by testing it on 98 species, providing valuable insights into scalability, equity, and inclusiveness for genomic projects.
Article Synopsis
- Scientists found that existing tools for analyzing single-cell data couldn't handle big data very well.
- They created a new tool called scywalker that makes it easier to analyze long-read sequencing data from single cells or nuclei.
- Scywalker can do many tasks in one go, like checking data quality and identifying different cell types, and it's available for anyone to use online.
Article Synopsis
- - The study explores how rare genetic variations contribute to Alzheimer's disease (AD) related traits, even though this area has not received much focus before.
- - Researchers conducted rare-variant association studies on genetic data from two different studies involving a total of 1,258 participants to identify any significant associations with Alzheimer's traits.
- - They discovered a new mutation possibly linked to AD and found significant genetic contributions from specific genes (RBKS and OR7A10) to cognitive performance and brain changes, which could help in developing new treatments and diagnostic methods for AD.
Alzheimer's disease (AD) biomarkers represent several neurodegenerative processes, such as synaptic dysfunction, neuronal inflammation and injury, as well as amyloid pathology. We performed an exome-wide rare variant analysis of six AD biomarkers (β-amyloid, total/phosphorylated tau, NfL, YKL-40, and Neurogranin) to discover genes associated with these markers. Genetic and biomarker information was available for 480 participants from two studies: EMIF-AD and ADNI.
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