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Genome Medicine|January 9, 2025
Clinical evaluation of long-read sequencing-based episignature detection in developmental disordersMathilde Geysens, Benjamin Huremagic, Erika Souche, et al.
Nucleic Acids Research|April 1, 2025
Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cellsYan Zhao, Olga Tsuiko, Tatjana Jatsenko, et al.
European Journal of Human Genetics : EJHG|August 20, 2025
MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysisBenjamin Huremagic, Nishkala Sattanathan, Mathilde Geysens, et al.
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