Haploid to diploid alignment for variation calling assessment

Variation calling is the process of detecting differences between donor and consensus DNA via high-throughput sequencing read mapping. When evaluating the performance of different variation calling methods, a typical scenario is to simulate artificial (diploid) genomes and sample reads from those. A...

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Veröffentlicht in:	BMC bioinformatics 2013, Vol.14 Suppl 15 (S15), p.S13-S13, Article S13
Hauptverfasser:	Mäkinen, Veli, Rahkola, Jani
Format:	Artikel
Sprache:	eng
Schlagworte:	Algorithms Diploidy Genome Genomes Haploidy Humans Methods Molecular biology Mutation Proceedings Sequence Alignment - methods Sequence Analysis, DNA - methods Studies
Online-Zugang:	Volltext
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