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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...
Autores principales: | Lowy-Gallego, Ernesto, Fairley, Susan, Zheng-Bradley, Xiangqun, Ruffier, Magali, Clarke, Laura, Flicek, Paul |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
F1000 Research Limited
2019
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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 |
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