Jesper Eisfeldt

TL;DR: The SweGen data set is described, a comprehensive map of genetic variation in the Swedish population that represents a basic resource for clinical genetics laboratories as well as for sequencing-based association studies by providing information on genetic variant frequencies in a cohort that is well matched to national patient cohorts.

TL;DR: The overall diagnostic rate was more than doubled compared to clinical microarray (12%), and the WGS data also allowed for analysis of SNVs, UPD, and STRs, it represents a powerful comprehensive genetic test in a clinical diagnostic laboratory setting.

TL;DR: WGS is a technology that may be used to identify a large proportion of the genomic structural variants in an individual in a single experiment and the number of callers that allow detection of the entire spectra of SV at a low computational cost is still relatively limited.

TL;DR: In this article, the authors report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since mid-2015.

TL;DR: Sarek is an open-source workflow to detect germline variants and somatic mutations based on sequencing data from WGS, whole-exome sequencing (WES), or gene panels that offers easy, efficient, and reproducible WGS analyses.