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Next‐generation sequencing as a tool for breakpoint analysis in rearrangements of the globin gene clusters

26 Apr 2017

Abstract excerpt

INTRODUCTION: Next-generation sequencing (NGS), now embedded within genomic laboratories, is well suited to the detection of small sequence changes but is less well adapt for detecting structural variants (SV), mainly due to the relatively short sequence reads. Of the available target enrichment methods, bait capture or whole-genome sequencing appears better suited to detecting SV as there is less PCR...

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PMID: 28447426
DOI: 10.1111/ijlh.12680

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