长读长测序方法学

2026

1. bioRxiv

   LongcallD: joint calling and phasing of small, structural and mosaic variants from long reads

   Yan Gao, Wen-Wei Liao, Qian Qin, and 2 more authors

   bioRxiv, Mar 2026

   DOI Bib HTML Code

   @article{Gao2026LongcallD,
     title = {{LongcallD}: joint calling and phasing of small, structural and mosaic variants from long reads},
     author = {Gao, Yan and Liao, Wen-Wei and Qin, Qian and Hall, Ira M and Li, Heng},
     journal = {bioRxiv},
     pages = {2026.03.20.713111},
     month = mar,
     year = {2026},
     doi = {10.64898/2026.03.20.713111},
   }

2. Bioinformatics

   FuFiHLA: A tool for full-field HLA typing from long-read data

   Jingqing Hu, Qian Qin, Heng Li, and 1 more author

   Bioinformatics, May 2026

   DOI Bib HTML Code

   @article{Hu2026FuFiHLA,
     title = {{FuFiHLA}: A tool for full-field {HLA} typing from long-read data},
     author = {Hu, Jingqing and Qin, Qian and Li, Heng and Zhou, Ying},
     journal = {Bioinformatics},
     pages = {btag231},
     month = may,
     year = {2026},
     doi = {10.1093/bioinformatics/btag231},
   }

2025

1. Genome Res

   Accurate fusion transcript identification from long- and short-read isoform sequencing at bulk or single-cell resolution

   Qian Qin, Victoria Popic, Kirsty Wienand, and 11 more authors

   Genome Research, Apr 2025

   DOI Bib HTML

   @article{Qin2025CTATLRFusion,
     title = {Accurate fusion transcript identification from long- and short-read isoform sequencing at bulk or single-cell resolution},
     author = {Qin, Qian and Popic, Victoria and Wienand, Kirsty and Yu, Houlin and White, Emily and Khorgade, Akanksha and Shin, Asa and Georgescu, Christophe and Campbell, Catarina D and Dondi, Arthur and Beerenwinkel, Niko and Vazquez, Francisca and Al'Khafaji, Aziz M and Haas, Brian J},
     journal = {Genome Research},
     volume = {35},
     number = {4},
     pages = {967--986},
     month = apr,
     year = {2025},
     doi = {10.1101/gr.279200.124},
   }

2. bioRxiv

   Improving long-read somatic structural variant calling with pangenome and de novo personal genome assembly

   Qian Qin, Jakob Heinz, and Heng Li

   bioRxiv, Oct 2025

   DOI Bib HTML

   @article{Qin2025LongReadSV,
     title = {Improving long-read somatic structural variant calling with pangenome and de novo personal genome assembly},
     author = {Qin, Qian and Heinz, Jakob and Li, Heng},
     journal = {bioRxiv},
     pages = {2025.10.28.685154},
     month = oct,
     year = {2025},
     doi = {10.1101/2025.10.28.685154},
   }

3. bioRxiv

   Diploid donor-specific assembly enhances somatic structural variant detection in cancer genomes

   Yuwei Zhang, Han Qu, Qian Qin, and 2 more authors

   bioRxiv, Oct 2025

   DOI Bib HTML

   @article{Zhang2025DSASV,
     title = {Diploid donor-specific assembly enhances somatic structural variant detection in cancer genomes},
     author = {Zhang, Yuwei and Qu, Han and Qin, Qian and Li, Heng and Park, Peter J},
     journal = {bioRxiv},
     pages = {2025.10.28.685155},
     month = oct,
     year = {2025},
     doi = {10.1101/2025.10.28.685155},
   }

4. GPB

   colorSV: Long-range Somatic Structural Variation Calling from Matched Tumor-normal Co-assembly Graphs

   M K Le, Qian Qin, and Heng Li

   Genomics, Proteomics & Bioinformatics, Sep 2025

   DOI Bib HTML Code

   @article{Le2025colorSV,
     title = {{colorSV}: Long-range Somatic Structural Variation Calling from Matched Tumor-normal Co-assembly Graphs},
     author = {Le, M K and Qin, Qian and Li, Heng},
     journal = {Genomics, Proteomics \& Bioinformatics},
     pages = {qzaf082},
     month = sep,
     year = {2025},
     doi = {10.1093/gpbjnl/qzaf082},
   }