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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...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Bioinformatics
Main Authors: Audano, Peter A, Ravishankar, Shashidhar, Vannberg, Fredrik O
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2018
Teme:
Online dostop: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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