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Variant calling on the GRCh38 assembly with the data from phase three of the 1000 Genomes Project

We present a set of biallelic SNVs and INDELs, from 2,548 samples spanning 26 populations from the 1000 Genomes Project, called de novo on GRCh38. We believe this will be a useful reference resource for those using GRCh38. It represents an improvement over the “lift-overs” of the 1000 Genomes Projec...

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Detalles Bibliográficos
Autores principales: Lowy-Gallego, Ernesto, Fairley, Susan, Zheng-Bradley, Xiangqun, Ruffier, Magali, Clarke, Laura, Flicek, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7059836/
https://www.ncbi.nlm.nih.gov/pubmed/32175479
http://dx.doi.org/10.12688/wellcomeopenres.15126.2