Introduction

Genomic structural variations (SVs) such as deletions, insertions, inversions, translocations and tandem duplications are an important class of genetic variations that underlies the genomic diversity in a population. Characterizing their underlying mechanisms and potential molecular consequences is crucial for understanding the basic biology of tumorigenesis. Here we engineered a local assembly based algorithm laSV that is able to detect structural variations (SV) with high accuracy from pair-end high-throughput genomic sequencing data and pinpoint their breakpoints at base-pair resolution. laSV can also estimate the allele frequencies of detected SVs, which will be useful for heterogeneous samples such as tumor samples.

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Publications

Recent Updates

Related Resources

Listed below are some useful resources related to laSV. Some datasets contain a README file describing the detailed information about the dataset. Please read the README files carefully before using the files.

  • Download the test dataset (1012MB) here
  • Download the human reference genome information (4.79GB) here

About us

laSV is developed by Jiali Zhuang in Dr. Zhiping Weng's lab at University of Massachusetts Medical School, Worcester, MA.
Visit our website to know more about who we are, our missions and our research.
Please forward any questions about laSV (or related resources), bug reports, suggestions and comments to Jiali Zhuang (jiali.zhuang@umassmed.edu)

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