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...
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: | |
Online Access: | http://www.mdpi.com/2073-4425/9/10/486 |
Similar Items
-
Evaluation of Single-Molecule Sequencing Technologies for Structural Variant Detection in Two Swedish Human Genomes
by: Nazeefa Fatima, et al.
Published: (2020-11-01) -
SMRT sequencing data for Garcinia mangostana L. variety Mesta
by: Mohd Razik Midin, et al.
Published: (2017-06-01) -
Comparative and functional genomics of the Lactococcus lactis taxon; insights into evolution and niche adaptation
by: Philip Kelleher, et al.
Published: (2017-03-01) -
Comparative Analysis of Whole-Genome and Methylome Profiles of a Smooth and a Rough Mycobacterium abscessus Clinical Strain
by: Chiranjibi Chhotaray, et al.
Published: (2020-01-01) -
Insights on virulence from the complete genome of Staphylococcus capitis
by: David eCameron, et al.
Published: (2015-09-01)