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Dovetail Genomics
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Oxford Nanopore
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LGC Genomics GmbH
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Loop Genomics
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RStudio
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Image Search Results
Journal: Journal of Translational Medicine
Article Title: Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of severe chronic fatigue
doi: 10.1186/s12967-023-04711-5
Figure Lengend Snippet: Part of the 60 × coverage Oxford Nanopore sequence viewed in IGV. Multiple reads at each end of the region show a pattern of insertions, deletions and mismatched bases suggestive of a heterozygous structural variant but there are no split reads
Article Snippet:
Techniques: Sequencing, Variant Assay
Journal: Journal of Translational Medicine
Article Title: Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of severe chronic fatigue
doi: 10.1186/s12967-023-04711-5
Figure Lengend Snippet: Simulated reads created from the 10 kb of the ALT assembly immediately outside of each breakpoint, shown a as an overview, and b as a close up (in split screen) at the ends of the Manta inversion calls from the short reads. For both views, 1 is the Manta calls, 2 is the 10 kb simulated reads aligned to the correct sides, 3 is the simulated reads aligned to the opposite sides, and 4 is the short-read sequence with RR- and LL-paired reads shown in turquoise and blue respectively. The green arrow indicates the section that was copied from the AKR1C1 end and pasted over the equivalent site at the other end, making the two simulated reads identical at that point
Article Snippet:
Techniques: Sequencing