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Alternate-locus aware variant calling in whole genome sequencing

BACKGROUND: The last two human genome assemblies have extended the previous linear golden-path paradigm of the human genome to a graph-like model to better represent regions with a high degree of structural variability. The new model offers opportunities to improve the technical validity of variant...

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Detalles Bibliográficos
Autores principales:	Jäger, Marten, Schubach, Max, Zemojtel, Tomasz, Reinert, Knut, Church, Deanna M., Robinson, Peter N.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155401/ https://www.ncbi.nlm.nih.gov/pubmed/27964746 http://dx.doi.org/10.1186/s13073-016-0383-z

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