EP350: QuaC: Implementing quality control best practices for genome sequencing and exome sequencing data

Abstract

Quality Control (QC) of genome sequencing (GS) and exome sequencing (ES) data is necessary to ensure that data are of sufficient quality for downstream analyses. This would ensure that sequenced reads pass expected measures of quality, inferences from sequenced data match sequenced individual’s expected metadata (sex, ancestry, relatedness) to identify sample swaps, samples are free of contamination from other human samples or other species, and unexpected batch effects are caught. While several QC tools are available to perform QC at various levels post sequencing, output needs to be reviewed and interpreted in a vary manual process.