Related Experiment Video
Updated: Nov 11, 2025

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
Published on: February 3, 2023
muCNV: Genotyping Structural Variants for Population-level Sequencing
Goo Jun1, Fritz Sedlazeck2, Qihui Zhu3
1Human Genetics Center, University of Texas Health Science Center at Houston, 1200 Pressler St., Houston, TX 77030, USA.
Motivation:
There are high demands for joint genotyping of structural variations with short-read sequencing, but efficient and accurate genotyping in population scale is a challenging task.
Results:
We developed muCNV that aggregates per-sample summary pileups for joint genotyping of > 100,000 samples. Pilot results show very low Mendelian inconsistencies. Applications to large-scale projects in cloud show the computational efficiencies of muCNV genotyping pipeline.
Availability:
muCNV is publicly available for download at: https://github.com/gjun/muCNV.
Supplementary Information:
Supplementary data are available at Bioinformatics online.
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