| 1 | Evaluating and improving the representation of bacterial contents in long-read metagenome assemblies | 8.4 | 2 | Citations (PDF) |
| 2 | Human telomere length is chromosome end–specific and conserved across individuals | 38.2 | 13 | Citations (PDF) |
| 3 | Genome assembly in the telomere-to-telomere era | 19.1 | 38 | Citations (PDF) |
| 4 | Scalable telomere-to-telomere assembly for diploid and polyploid genomes with double graph | 14.5 | 18 | Citations (PDF) |
| 5 | Full-resolution HLA and KIR gene annotations for human genome assemblies | 4.6 | 3 | Citations (PDF) |
| 6 | Exploring gene content with pangene graphs | 5.0 | 5 | Citations (PDF) |
| 7 | Protein-to-genome alignment with miniprot | 5.0 | 94 | Citations (PDF) |
| 8 | AGC: compact representation of assembled genomes with fast queries and updates | 5.0 | 5 | Citations (PDF) |
| 9 | A draft human pangenome reference | 40.1 | 345 | Citations (PDF) |
| 10 | Pangenome graph construction from genome alignments with Minigraph-Cactus | 18.1 | 58 | Citations (PDF) |
| 11 | Efficient and accurate KIR and HLA genotyping with massively parallel sequencing data | 4.6 | 13 | Citations (PDF) |
| 12 | De novo reconstruction of satellite repeat units from sequence data | 4.6 | 11 | Citations (PDF) |
| 13 | Postmortem high-dimensional immune profiling of severe COVID-19 patients reveals distinct patterns of immunosuppression and immunoactivation | 14.1 | 18 | Citations (PDF) |
| 14 | Curated variation benchmarks for challenging medically relevant autosomal genes | 18.1 | 84 | Citations (PDF) |
| 15 | CoLoRd: compressing long reads | 14.5 | 10 | Citations (PDF) |
| 16 | Haplotype-resolved assembly of diploid genomes without parental data | 18.1 | 203 | Citations (PDF) |
| 17 | The complete sequence of a human genome | 38.2 | 1,436 | Citations (PDF) |
| 18 | The Human Pangenome Project: a global resource to map genomic diversity | 40.1 | 206 | Citations (PDF) |
| 19 | Metagenome assembly of high-fidelity long reads with hifiasm-meta | 14.5 | 82 | Citations (PDF) |
| 20 | BCOR-CCNB3 sarcoma with concurrent RNF213-SLC26A11 gene fusion: a rare sarcoma with altered histopathological features after chemotherapy | 2.1 | 0 | Citations (PDF) |
| 21 | Comprehensive Characterizations of Immune Receptor Repertoire in Tumors and Cancer Immunotherapy Studies | 3.7 | 12 | Citations (PDF) |
| 22 | Identifying and correcting repeat-calling errors in nanopore sequencing of telomeres | 8.4 | 25 | Citations (PDF) |
| 23 | Semi-automated assembly of high-quality diploid human reference genomes | 40.1 | 89 | Citations (PDF) |
| 24 | Bedtk: finding interval overlap with implicit interval tree | 5.0 | 5 | Citations (PDF) |
| 25 | Targeting a cytokine checkpoint enhances the fitness of armored cord blood CAR-NK cellsBlood, 2021, 137, 624-636 | 1.0 | 188 | Citations (PDF) |
| 26 | HTSlib: C library for reading/writing high-throughput sequencing data | 3.4 | 181 | Citations (PDF) |
| 27 | Accurate SNV detection in single cells by transposon-based whole-genome amplification of complementary strands | 7.7 | 42 | Citations (PDF) |
| 28 | Haplotype-resolved de novo assembly using phased assembly graphs with hifiasm | 14.5 | 2,371 | Citations (PDF) |
| 29 | Aberrant expression of thyroid transcription factor-1 in meningeal solitary fibrous tumor/hemangiopericytoma | 2.0 | 1 | Citations (PDF) |
| 30 | Higher Rates of Processed Pseudogene Acquisition in Humans and Three Great Apes Revealed by Long-Read Assemblies | 4.7 | 11 | Citations (PDF) |
| 31 | Pyroptotic macrophages stimulate the SARS-CoV-2-associated cytokine storm | 10.4 | 76 | Citations (PDF) |
| 32 | The Prognostic Value of Retraction Clefts in Chinese Invasive Breast Cancer Patients | 1.9 | 2 | Citations (PDF) |
| 33 | A cohort autopsy study defines COVID-19 systemic pathogenesis | 8.2 | 105 | Citations (PDF) |
| 34 | CRISPAltRations: A validated cloud-based approach for interrogation of double-strand break repair mediated by CRISPR genome editing | 4.3 | 16 | Citations (PDF) |
| 35 | Comprehensive identification of transposable element insertions using multiple sequencing technologies | 14.1 | 49 | Citations (PDF) |
| 36 | Real-time mapping of nanopore raw signals | 5.0 | 33 | Citations (PDF) |
| 37 | Haplotype-resolved germline and somatic alterations in renal medullary carcinomas | 9.9 | 7 | Citations (PDF) |
| 38 | Vasculogenic Mimicry Formation Predicts Tumor Progression in Oligodendroglioma | 1.9 | 3 | Citations (PDF) |
| 39 | Twelve years of SAMtools and BCFtools | 3.4 | 5,353 | Citations (PDF) |
| 40 | New strategies to improve minimap2 alignment accuracy | 5.0 | 422 | Citations (PDF) |
| 41 | Fast alignment and preprocessing of chromatin profiles with Chromap | 14.1 | 63 | Citations (PDF) |
| 42 | A haplotype-aware<i>de novo</i>assembly of related individuals using pedigree sequence graph | 5.0 | 20 | Citations (PDF) |
| 43 | Pathological changes in the lungs and lymphatic organs of 12 COVID-19 autopsy cases | 10.0 | 53 | Citations (PDF) |
| 44 | The design and construction of reference pangenome graphs with minigraph | 8.4 | 205 | Citations (PDF) |
| 45 | Differential DNA methylation of vocal and facial anatomy genes in modern humans | 14.1 | 51 | Citations (PDF) |
| 46 | Chromosome-scale, haplotype-resolved assembly of human genomes | 18.1 | 103 | Citations (PDF) |
| 47 | htsget: a protocol for securely streaming genomic data | 5.0 | 18 | Citations (PDF) |
| 48 | Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome | 18.1 | 980 | Citations (PDF) |
| 49 | Efficient Architecture-Aware Acceleration of BWA-MEM for Multicore Systems 2019, , | | 1,045 | Citations (PDF) |
| 50 | Identifying centromeric satellites with dna-brnn | 5.0 | 16 | Citations (PDF) |
| 51 | <p>The distinct clinicopathological and prognostic implications of&nbsp;<em>PIK3CA</em>&nbsp;mutations in breast cancer patients from Central China</p> | 1.9 | 10 | Citations (PDF) |
| 52 | An Accurate and Comprehensive Clinical Sequencing Assay for Cancer Targeted and Immunotherapies | 3.6 | 70 | Citations (PDF) |
| 53 | Fast and accurate long-read assembly with wtdbg2 | 14.5 | 834 | Citations (PDF) |
| 54 | Worldwide genetic variation of the IGHV and TRBV immune receptor gene families in humans | 2.7 | 22 | Citations (PDF) |
| 55 | Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees | 7.7 | 26 | Citations (PDF) |
| 56 | Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects | 14.1 | 119 | Citations (PDF) |
| 57 | Minimap2: pairwise alignment for nucleotide sequences | 5.0 | 6,764 | Citations (PDF) |
| 58 | A synthetic-diploid benchmark for accurate variant-calling evaluation | 14.5 | 118 | Citations (PDF) |
| 59 | Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly | 4.6 | 622 | Citations (PDF) |
| 60 | The Simons Genome Diversity Project: 300 genomes from 142 diverse populations | 40.1 | 934 | Citations (PDF) |
| 61 | Minimap and miniasm: fast mapping and de novo assembly for noisy long sequences | 5.0 | 873 | Citations (PDF) |
| 62 | BGT: efficient and flexible genotype query across many samples | 5.0 | 40 | Citations (PDF) |
| 63 | Extreme selective sweeps independently targeted the X chromosomes of the great apes | 7.7 | 55 | Citations (PDF) |
| 64 | No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans | 16.3 | 135 | Citations (PDF) |
| 65 | FermiKit: assembly-based variant calling for Illumina resequencing data | 5.0 | 67 | Citations (PDF) |
| 66 | BFC: correcting Illumina sequencing errors | 5.0 | 128 | Citations (PDF) |
| 67 | A global reference for human genetic variation | 40.1 | 11,630 | Citations (PDF) |
| 68 | The contribution of rare variation to prostate cancer heritability | 16.3 | 102 | Citations (PDF) |
| 69 | Fast construction of FM-index for long sequence reads | 5.0 | 49 | Citations (PDF) |
| 70 | Genome sequence of a 45,000-year-old modern human from western Siberia | 40.1 | 720 | Citations (PDF) |
| 71 | Ancient human genomes suggest three ancestral populations for present-day Europeans | 40.1 | 903 | Citations (PDF) |
| 72 | Toward better understanding of artifacts in variant calling from high-coverage samples | 5.0 | 601 | Citations (PDF) |
| 73 | Mapping the Human Reference Genome’s Missing Sequence by Three-Way Admixture in Latino Genomes | 6.8 | 29 | Citations (PDF) |
| 74 | The anatomy of successful computational biology software | 18.1 | 19 | Citations (PDF) |
| 75 | Pseudo-Sanger sequencing: massively parallel production of long and near error-free reads using NGS technology | 3.2 | 12 | Citations (PDF) |
| 76 | Using population admixture to help complete maps of the human genome | 16.3 | 50 | Citations (PDF) |
| 77 | Great ape genetic diversity and population history | 40.1 | 635 | Citations (PDF) |
| 78 | SOAPindel: Efficient identification of indels from short paired reads | 4.6 | 102 | Citations (PDF) |
| 79 | The complete genome sequence of a Neanderthal from the Altai Mountains | 40.1 | 1,529 | Citations (PDF) |
| 80 | pIRS: Profile-based Illumina pair-end reads simulator | 5.0 | 138 | Citations (PDF) |
| 81 | The Date of Interbreeding between Neandertals and Modern Humans | 3.3 | 345 | Citations (PDF) |
| 82 | Exploring single-sample SNP and INDEL calling with whole-genome<i>de novo</i>assembly | 5.0 | 292 | Citations (PDF) |
| 83 | A direct characterization of human mutation based on microsatellites | 16.3 | 250 | Citations (PDF) |
| 84 | A High-Coverage Genome Sequence from an Archaic Denisovan Individual | 38.2 | 1,366 | Citations (PDF) |
| 85 | Extremely low-coverage sequencing and imputation increases power for genome-wide association studies | 16.3 | 198 | Citations (PDF) |
| 86 | Inference of human population history from individual whole-genome sequences | 40.1 | 1,714 | Citations (PDF) |
| 87 | A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data | 5.0 | 4,292 | Citations (PDF) |
| 88 | Tabix: fast retrieval of sequence features from generic TAB-delimited files | 5.0 | 377 | Citations (PDF) |
| 89 | Improving SNP discovery by base alignment quality | 5.0 | 225 | Citations (PDF) |
| 90 | A Draft Sequence of the Neandertal Genome | 38.2 | 3,017 | Citations (PDF) |
| 91 | Genetic history of an archaic hominin group from Denisova Cave in Siberia | 40.1 | 1,369 | Citations (PDF) |
| 92 | Evolutionary Transients in the Rice Transcriptome | 6.1 | 9 | Citations (PDF) |
| 93 | A survey of sequence alignment algorithms for next-generation sequencing | 7.1 | 645 | Citations (PDF) |
| 94 | Fast and accurate long-read alignment with Burrows–Wheeler transform | 5.0 | 8,761 | Citations (PDF) |
| 95 | Detecting SNPs and estimating allele frequencies in clonal bacterial populations by sequencing pooled DNA | 5.0 | 37 | Citations (PDF) |
| 96 | Haplotype frequencies in a sub-region of chromosome 19q13.3, related to risk and prognosis of cancer, differ dramatically between ethnic groups | 2.1 | 15 | Citations (PDF) |
| 97 | The Sequence Alignment/Map format and SAMtools | 5.0 | 40,659 | Citations (PDF) |
| 98 | Fast and accurate short read alignment with Burrows–Wheeler transform | 5.0 | 38,152 | Citations (PDF) |
| 99 | Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levels | 14.0 | 33 | Citations (PDF) |
| 100 | The sequence and de novo assembly of the giant panda genome | 40.1 | 958 | Citations (PDF) |
| 101 | Omics‐based profiling of carcinoma of the breast and matched regional lymph node metastasis | 3.8 | 23 | Citations (PDF) |
| 102 | The diploid genome sequence of an Asian individual | 40.1 | 728 | Citations (PDF) |
| 103 | Accurate whole human genome sequencing using reversible terminator chemistry | 40.1 | 2,769 | Citations (PDF) |
| 104 | A Bayesian deconvolution strategy for immunoprecipitation-based DNA methylome analysis | 18.1 | 521 | Citations (PDF) |
| 105 | Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing | 16.3 | 656 | Citations (PDF) |
| 106 | Mapping short DNA sequencing reads and calling variants using mapping quality scores | 4.6 | 2,036 | Citations (PDF) |
| 107 | PigGIS: Pig Genomic Informatics System | 16.2 | 8 | Citations (PDF) |
| 108 | Snap: an integrated SNP annotation platform | 16.2 | 37 | Citations (PDF) |
| 109 | TreeFam: 2008 Update | 16.2 | 263 | Citations (PDF) |
| 110 | A cross-species alignment tool (CAT) | 3.3 | 4 | Citations (PDF) |
| 111 | Porcine transcriptome analysis based on 97 non-normalized cDNA libraries and assembly of 1,021,891 expressed sequence tags | 14.0 | 66 | Citations (PDF) |
| 112 | TreeFam: a curated database of phylogenetic trees of animal gene families | 16.2 | 420 | Citations (PDF) |
| 113 | Test Data Sets and Evaluation of Gene Prediction Programs on the Rice Genome | 1.5 | 14 | Citations (PDF) |
| 114 | The Genomes of Oryza sativa: A History of Duplications | 5.2 | 776 | Citations (PDF) |
| 115 | Neutral evolution of ‘non-coding’ complementary DNAs | 40.1 | 127 | Citations (PDF) |
| 116 | A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms | 40.1 | 355 | Citations (PDF) |
| 117 | Genes controlling seed dormancy and pre-harvest sprouting in a rice-wheat-barley comparison | 3.0 | 133 | Citations (PDF) |
| 118 | A Draft Sequence for the Genome of the Domesticated Silkworm (
<i>Bombyx mori</i>
) | 38.2 | 950 | Citations (PDF) |
