Article

Long-read sequencing resolves structural variants in <i>SERPINC1</i> causing antithrombin deficiency and identifies a complex rearrangement and a retrotransposon insertion not characterized by routine diagnostic methods

2020-08-28

Abstract excerpt

The identification and characterization of structural variants (SVs) in clinical genetics have remained historically challenging as routine genetic diagnostic techniques have limited ability to evaluate repetitive regions and SVs. Long-read whole-genome sequencing (LR-WGS) has emerged as a powerful approach to resolve SVs. Here, we used LR-WGS to study 19 unrelated cases with type I Antithrombin Deficiency (ATD),...

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Literature Corpus work: 86052700-850d-592c-b26f-8a62c41e7279
DOI: 10.1101/2020.08.28.271932

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Long-read sequencing resolves structural variants in <i>SERPINC1</i> causing antithrombin deficiency and identifies a complex rearrangement and a retrotransposon insertion not characterized by routine diagnostic methodsDOI 10.1101/2020.08.28.271932Read

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