Towards pan-genome read alignment to improve variation calling

BACKGROUND: Typical human genome differs from the reference genome at 4-5 million sites. This diversity is increasingly catalogued in repositories such as ExAC/gnomAD, consisting of >15,000 whole-genomes and >126,000 exome sequences from different individuals. Despite this enormous diversity,...

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Detalles Bibliográficos
Autores principales: Valenzuela, Daniel, Norri, Tuukka, Välimäki, Niko, Pitkänen, Esa, Mäkinen, Veli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5954285/
https://www.ncbi.nlm.nih.gov/pubmed/29764365
http://dx.doi.org/10.1186/s12864-018-4465-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5954285/
https://www.ncbi.nlm.nih.gov/pubmed/29764365
http://dx.doi.org/10.1186/s12864-018-4465-8

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