SUMMER: Pipeline for Long-read Sequencing
SUMMER is an integrated pipeline for holistic human genomic variations detections via nanopore sequencing.
Long-read sequencing has flourished and boomed in recent years for deciphering complex genetic problems in human. The pipeline SUMMER incorporates critical softwares in ONT long-read sequencing to provide a handy pathway detecting and annoting possible pathogenic structural variations, dynamic mutations as well as mobile elements, etc. This would promote the clinical understanding of ONT long-read sequencing. All softwares intergrated in SUMMER are also pushed in the docker container, users can also feel free to achieve self-defined functions.
See instructions on website: https://pku-edu.gitbook.io/summer-pipeline-for-long-read-sequencing/
