VarGrouper: A Bioinformatic Tool for Local Haplotyping of Deletion-Insertion Variants from Next-Generation Sequencing Data after Variant Calling

Accurate genetic variant representation through nomenclature and annotation is essential for understanding functional consequence and properly noting the presence of variants across time, assays, and laboratories. Current variant calling algorithms detect single deletion-insertion variants as multip...

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Veröffentlicht in:	The Journal of molecular diagnostics : JMD 2019-05, Vol.21 (3), p.384-389
Hauptverfasser:	Schmidt, Ryan J, Macleay, Allison, Le, Long Phi
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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