Article

Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions

2024-04-24

Abstract excerpt

Both long-read genome sequencing (lrGS) and the recently published Telomere to Telomere (T2T) reference genome provide increased coverage and resolution across repetitive regions promising heightened structural variant detection and improved mapping. Inversions (INV), intrachromosomal segments which are rotated 180° and inserted back into the same chromosome, are a class of structural variants particularly challen...

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Literature Corpus work: 8459c741-750b-50ee-be08-7b86b1d13134
DOI: 10.1101/2024.04.22.24305780

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