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Mapping-free variant calling using haplotype reconstruction from k-mer frequencies

MOTIVATION: The standard protocol for detecting variation in DNA is to map millions of short sequence reads to a known reference and find loci that differ. While this approach works well, it cannot be applied where the sample contains dense variants or is too distant from known references. De novo a...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Bioinformatics
Hauptverfasser: Audano, Peter A, Ravishankar, Shashidhar, Vannberg, Fredrik O
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2018
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5946877/
https://ncbi.nlm.nih.gov/pubmed/29186321
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btx753
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