Publications by authors named "Weijin Qiu"
Robust Benchmark Structural Variant Calls of An Asian Using State-of-the-art Long-read Sequencing Technologies.
Genomics Proteomics Bioinformatics
February 2022
Article Synopsis
- The study emphasizes the growing recognition of structural variants (SVs) in influencing human traits and diseases, highlighting the need for effective detection methods.
- Researchers created a comprehensive Asian reference material by analyzing the genome of a B lymphocyte line, leading to the identification of 8938 high-confidence SVs using various advanced sequencing technologies.
- The work includes substantial validation of randomly selected SVs and establishes a benchmark for assessing detection accuracy, which can aid in future studies of SVs and their roles in human biology and medicine.