Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelines.
Stephan WeißbachStanislav SysCharlotte HewelHristo TodorovSusann SchweigerJennifer WinterMarkus PfenningerAli TorkamaniDoug EvansJoachim BurgerKarin Everschor-SitteHelen Louise May-SimeraSusanne GerberPublished in: BMC genomics (2021)
We provide empirical evidence of systematic heterogeneity in variant calls between alternative experimental and data analysis setups. Furthermore, our results demonstrate the benefit of reprocessing genomic data with harmonized pipelines when integrating data from different studies.