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ABRA: improved coding indel detection via assembly-based realignment

Motivation: Variant detection from next-generation sequencing (NGS) data is an increasingly vital aspect of disease diagnosis, treatment and research. Commonly used NGS-variant analysis tools generally rely on accurately mapped short reads to identify somatic variants and germ-line genotypes. Existi...

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Autors principals: Mose, Lisle E., Wilkerson, Matthew D., Hayes, D. Neil, Perou, Charles M., Parker, Joel S.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4173014/
https://ncbi.nlm.nih.gov/pubmed/24907369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btu376
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