Enhancing clinical genomic accuracy with panelGC: a novel metric and tool for quantifying and monitoring GC biases in hybridization capture panel sequencing

Abstract Accurate assessment of fragment abundance within a genome is crucial in clinical genomics applications such as the analysis of copy number variation (CNV). However, this task is often hindered by biased coverage in regions with varying guanine–cytosine (GC) content. These biases are particu...

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Veröffentlicht in:Briefings in bioinformatics 2024-07, Vol.25 (5)
Hauptverfasser: Cheng, Xuanjin, Goktas, Murathan T, Williamson, Laura M, Krzywinski, Martin, Mulder, David T, Swanson, Lucas, Slind, Jill, Sihvonen, Jelena, Chow, Cynthia R, Carr, Amy, Bosdet, Ian, Tucker, Tracy, Young, Sean, Moore, Richard, Mungall, Karen L, Yip, Stephen, Jones, Steven J M
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Sprache:eng
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