Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects
Allison Regier, Yossi Farjoun, David E. Larson, Olga A. Krasheninina, Hyun Min Kang, Daniel P. Howrigan, Bo-Juen Chen, Manisha Kher, Eric Banks, Darren C. Ames, Adam C. English, Heng Li, Jinchuan Xing, Yeting Zhang, Tara Cox Matise, , Ira M. Hall
The paper defines functional equivalence standards for genome sequencing pipelines to enable harmonized variant calling across diverse datasets with minimal batch effects.
Nature Communications · Sep 26, 2018Peer-reviewedBioinformatics