Mar 29, 2020

Accuracy and efficiency of germline variant calling pipelines for human genome data

BioRxiv : the Preprint Server for Biology


Advances in next-generation sequencing technology has enabled whole genome sequencing (WGS) to be widely used for identification of causal variants in a spectrum of genetic-related disorders, and provided new insight into how genetic polymorphisms affect disease phenotypes. The development of different bioinformatics pipelines has continuously improved the variant analysis of WGS data, however there is a necessity for a systematic performance comparison of these pipelines to provide guidance on the application of WGS-based scientific and clinical genomics. In this study, we evaluated the performance of three variant calling pipelines (GATK, DRAGENTM and DeepVariant) using Genome in a Bottle Consortium, "synthetic-diploid" and simulated WGS datasets. DRAGENTM and DeepVariant show a better accuracy in SNPs and indels calling, with no significant differences in their F1-score. DRAGENTM platform offers accuracy, flexibility and a highly-efficient running speed, and therefore superior advantage in the analysis of WGS data on a large scale. The combination of DRAGENTM and DeepVariant also provides a good balance of accuracy and efficiency as an alternative solution for germline variant detection in further applications. Our results f...Continue Reading

  • References
  • Citations


  • We're still populating references for this paper, please check back later.
  • References
  • Citations


  • This paper may not have been cited yet.

Mentioned in this Paper

Computer Software
Real-Time Polymerase Chain Reaction
Health Care Quality Control
Electron Microscopy
probe gene fragment
Research Study
Protein Expression

Related Feeds

BioRxiv & MedRxiv Preprints

BioRxiv and MedRxiv are the preprint servers for biology and health sciences respectively, operated by Cold Spring Harbor Laboratory. Here are the latest preprint articles (which are not peer-reviewed) from BioRxiv and MedRxiv.