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Haploid to diploid alignment for variation calling assessment

MOTIVATION: 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 f...

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Detalles Bibliográficos
Autores principales: Mäkinen, Veli, Rahkola, Jani
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852041/
https://www.ncbi.nlm.nih.gov/pubmed/24564537
http://dx.doi.org/10.1186/1471-2105-14-S15-S13