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Author: Heng Li

Rankings

  • All-time downloads: 68,165 (rank: 502 out of 363,737)
  • Categories:
    • bioinformatics: 28,828 (rank: 79 out of 31,459)
    • evolutionary biology: 587 (rank: 8,326 (tie) out of 18,796)
    • genetics: 18,768 (rank: 416 (tie) out of 34,067)
    • genomics: 19,730 (rank: 428 out of 39,235)
    • immunology: 252 (rank: 13,072 (tie) out of 18,883)

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Preprints

Ancient human genomes suggest three ancestral populations for present-day Europeans

genetics more details view paper
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Highly-accurate long-read sequencing improves variant detection and assembly of a human genome

genomics more details view paper
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Genome Graphs

bioinformatics more details view paper
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Fast and accurate long-read assembly with wtdbg2

bioinformatics more details view paper
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Genes Affecting Vocal and Facial Anatomy Went Through Extensive Regulatory Divergence in Modern Humans

genomics more details view paper
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SAM/BAM format v1.5 extensions for de novo assemblies

bioinformatics more details view paper
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New synthetic-diploid benchmark for accurate variant calling evaluation

bioinformatics more details view paper
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Efficient chromosome-scale haplotype-resolved assembly of human genomes

bioinformatics more details view paper
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Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

bioinformatics more details view paper
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Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

genomics more details view paper
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A haplotype-aware de novo assembly of related individuals using pedigree graph

bioinformatics more details view paper
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    • In bioinformatics: 1,371 out of 8,105
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Worldwide genetic variation of the IGHV and TRBV immune receptor gene families in humans

genomics more details view paper
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No evidence that natural selection has been less effective at removing deleterious mutations in Europeans than in West Africans

evolutionary biology more details view paper
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    • In evolutionary biology: 1,591 out of 5,237
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    • Site-wide: 79,366 out of 84,502

Exploratory analysis and error modeling of a sequencing technology

genomics more details view paper
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    • Site-wide: 60,290 out of 84,502

SDip: A novel graph-based approach to haplotype-aware assembly based structural variant calling in targeted segmental duplications sequencing

bioinformatics more details view paper
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    • In bioinformatics: 4,550 out of 8,105
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    • Site-wide: 8,659 out of 84,502

CIS checkpoint deletion enhances the fitness of cord blood derived natural killer cells transduced with a chimeric antigen receptor

immunology more details view paper
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