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

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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Bibliographic Details
Main Authors: Adam Ameur, Huiwen Che, Marcel Martin, Ignas Bunikis, Johan Dahlberg, Ida Höijer, Susana Häggqvist, Francesco Vezzi, Jessica Nordlund, Pall Olason, Lars Feuk, Ulf Gyllensten
Format: Article
Language:English
Published: MDPI AG 2018-10-01
Series:Genes
Subjects:
de novo assembly
SMRT sequencing
GRCh38
human reference genome
human whole-genome sequencing
population sequencing
Swedish population
Online Access:http://www.mdpi.com/2073-4425/9/10/486

Internet

http://www.mdpi.com/2073-4425/9/10/486

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