This study quantifies index hopping rates on the Illumina HiSeqX platform and finds they are low, suggesting multiplexing does not significantly affect results compared to older platforms.

Molecular Ecology Resources · Mar 8, 2019Peer-reviewedBioinformatics

De novo assembly of two Swedish genomes reveals missing segments from the human GRCh38 reference and improves variant calling of population-scale sequencing data

Adam Ameur, Huiwen Che, Marcel Martin, Ignas Bunikis, Johan Dahlberg, Ida Höijer, Susana Häggqvist, Francesco Vezzi, Jessica Nordlund, Pall I. Olason, Lars Feuk, Ulf B Gyllensten

The paper performs de novo assembly of two Swedish genomes, identifies novel sequences absent from GRCh38, and shows improved variant calling with these sequences.

Genes · Oct 9, 2018Peer-reviewedGenomics

SweGen: A whole-genome map of genetic variability in a cross-section of the Swedish population

Adam Ameur, Johan Dahlberg, Pall I. Olason, Francesco Vezzi, Robert Karlsson, Marcel Martin, Johan Viklund, Andreas Kähäri, Pär Lundin, Huiwen Che, Jessada Thutkawkorapin, Jesper Eisfeldt, Samuel Lampa, Mats Dahlberg, Jonas Hagberg, , Ulf B Gyllensten

SweGen provides a high-quality whole-genome map of genetic variation in the Swedish population, useful for clinical genetics and association studies.

European Journal of Human Genetics · Aug 23, 2017Peer-reviewedGenetics