Article

Finding an optimal sequencing strategy to detect short and long genetic variants in a human genome

2025-05-30

Abstract excerpt

Advances in DNA sequencing have transformed genomics, enabling comprehensive insights into human genetic variation. While short-read sequencing (SRS) remains dominant due to its high accuracy and affordability, its limitations in complex genomic regions have spurred the adoption of long-read sequencing (LRS) platforms, such as those from Pacific Biosciences (PacBio) and Oxford Nanopore Technologies (ONT). Despite...

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Literature Corpus work: efc6f2b9-79e9-538d-b492-21e460941198
DOI: 10.1101/2025.05.30.656631

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