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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Detalles Bibliográficos
Autores principales: Audano, Peter A, Ravishankar, Shashidhar, Vannberg, Fredrik O
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946877/
https://www.ncbi.nlm.nih.gov/pubmed/29186321
http://dx.doi.org/10.1093/bioinformatics/btx753

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946877/
https://www.ncbi.nlm.nih.gov/pubmed/29186321
http://dx.doi.org/10.1093/bioinformatics/btx753

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