Article

Third Generation Cytogenetic Analysis (TGCA): diagnostic application of long-read sequencing

2021-08-15

Abstract excerpt

Unbalanced Structural Variants (uSVs) play important roles in the pathogenesis of several genetic syndromes. Traditional and molecular karyotyping are considered the first-tier diagnostic tests to detect macroscopic and cryptic deletions/duplications. However, their time-consuming and laborious experimental protocols protract diagnostic times from three to fifteen days. Long read sequencing approaches, such as Oxf...

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Literature Corpus work: d5a15226-4aea-5344-8612-e6a78a5fd904
DOI: 10.1101/2021.08.13.456226

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