De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data

The current human reference sequence (GRCh38) is a foundation for large-scale sequencing projects. However, recent studies have suggested that GRCh38 may be incomplete and give a suboptimal representation of specific population groups. Here, we performed a de novo assembly of two Swedish genomes tha...

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Detalles Bibliográficos
Autores principales: Ameur, Adam, Che, Huiwen, Martin, Marcel, Bunikis, Ignas, Dahlberg, Johan, Höijer, Ida, Häggqvist, Susana, Vezzi, Francesco, Nordlund, Jessica, Olason, Pall, Feuk, Lars, Gyllensten, Ulf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6210158/
https://www.ncbi.nlm.nih.gov/pubmed/30304863
http://dx.doi.org/10.3390/genes9100486

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