Publications by authors named "W De Coster"
Structural variants (SVs) are important contributors to human disease. Their characterization remains however difficult due to their size and association with repetitive regions. Long-read sequencing (LRS) and optical genome mapping (OGM) can aid as their molecules span multiple kilobases and capture SVs in full.
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- * The 1000 Genomes Project and Oxford Nanopore Technologies are working together to produce LRS data from at least 800 samples to enhance the identification of genetic variations and better understand human genetic diversity.
- * Initial analysis of 100 samples shows high accuracy in detecting genetic variants, including structural variants that disrupt gene function, and provides valuable data for the clinical genetics community to advance research on pathogenic variations.
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.
The lack of population-scale databases hampers research and diagnostics for medically relevant tandem repeats and repeat expansions. We attempt to fill this gap using our pathSTR web tool, which leverages long-read sequencing of large cohorts to determine repeat length and sequence composition in a healthy population. The current version includes 1040 individuals of The 1000 Genomes Project cohort sequenced on the Oxford Nanopore Technologies PromethION.
View Article and Find Full Text PDFFrontotemporal lobar degeneration with neuronal inclusions of the TAR DNA-binding protein 43 (FTLD-TDP) is a fatal neurodegenerative disorder with only a limited number of risk loci identified. We report our comprehensive genome-wide association study as part of the International FTLD-TDP Whole-Genome Sequencing Consortium, including 985 cases and 3,153 controls, and meta-analysis with the Dementia-seq cohort, compiled from 26 institutions/brain banks in the United States, Europe and Australia. We confirm as the strongest overall FTLD-TDP risk factor and identify as a novel FTLD-TDP risk factor.
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