A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions
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Methylmap : visualization of modified nucleotides for large cohort sizes
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Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
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Genome research - ISSN 1088-9051-34:11 (2024) p. 2074-2080
NanoSatellite : accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION
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Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome
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