Fast and accurate short read alignment with Burrows-Wheeler transform

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9. Computational analysis of bacterial RNA-Seq data
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11. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids
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12. Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines
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13. Characterizing the Major Structural Variant Alleles of the Human Genome
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14. Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation
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16. Design and Analysis of Single-Cell Sequencing Experiments
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18. Cistrome Data Browser: a data portal for ChIP-Seq and chromatin accessibility data in human and mouse
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19. Sexual-dimorphism in human immune system aging
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20. Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition
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21. High-content CRISPR screening
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22. m6A modulates haematopoietic stem and progenitor cell specification
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23. The genome sequence of allopolyploid Brassica juncea and analysis of differential homoeolog gene expression influencing selection
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24. Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes
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25. A human gut bacterial genome and culture collection for improved metagenomic analyses
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26. Viral infection and transmission in a large, well-traced outbreak caused by the SARS-CoV-2 Delta variant
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27. Analysing and interpreting DNA methylation data
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28. Genetic mechanisms of target antigen loss in CAR19 therapy of acute lymphoblastic leukemia
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29. Pan-genome analysis of 33 genetically diverse rice accessions reveals hidden genomic variations
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30. Genomic Copy Number Dictates a Gene-Independent Cell Response to CRISPR/Cas9 Targeting
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31. Mosaic Copy Number Variation in Human Neurons
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32. WASP: allele-specific software for robust molecular quantitative trait locus discovery
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33. Somatic mutation in single human neurons tracks developmental and transcriptional history
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34. Optical maps refine the bread wheat Triticum aestivum cv. Chinese Spring genome assembly
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35. Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network
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36. Single-Cell Analysis of Human Pancreas Reveals Transcriptional Signatures of Aging and Somatic Mutation Patterns
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37. Partial uracil–DNA–glycosylase treatment for screening of ancient DNA
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38. A public genome-scale lentiviral expression library of human ORFs
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39. Early Divergent Strains of Yersinia pestis in Eurasia 5,000 Years Ago
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40. SpeedSeq: ultra-fast personal genome analysis and interpretation
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41. Disruption of DNA-methylation-dependent long gene repression in Rett syndrome
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42. Genome-wide profiling of HPV integration in cervical cancer identifies clustered genomic hot spots and a potential microhomology-mediated integration mechanism
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43. Identifying Mendelian disease genes with the Variant Effect Scoring Tool
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44. Resequencing of 243 diploid cotton accessions based on an updated A genome identifies the genetic basis of key agronomic traits
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45. Shedding light on the grey zone of speciation along a continuum of genomic divergence
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46. Assembly of 913 microbial genomes from metagenomic sequencing of the cow rumen
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47. Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
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48. Pervasive genetic hitchhiking and clonal interference in forty evolving yeast populations
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49. A review of methods and databases for metagenomic classification and assembly
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50. Genetic diagnosis of Mendelian disorders via RNA sequencing
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51. Spatial maps of prostate cancer transcriptomes reveal an unexplored landscape of heterogeneity
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52. TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients
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53. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
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54. Comparative genomics of the major parasitic worms
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55. An integrated expression atlas of miRNAs and their promoters in human and mouse
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56. Epidemiological, clinical and virological characteristics of four cases of monkeypox support transmission through sexual contact, Italy, May 2022
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58. Chemical pulldown reveals dynamic pseudouridylation of the mammalian transcriptome
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59. Targeted genome editing in human repopulating haematopoietic stem cells
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60. Identification of novel NRF2-regulated genes by ChIP-Seq: influence on retinoid X receptor alpha
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61. Precise Manipulation of Chromosomes in Vivo Enables Genome-Wide Codon Replacement
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62. Protein–RNA interactions: new genomic technologies and perspectives
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63. The genomic landscape underlying phenotypic integrity in the face of gene flow in crows
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64. Genome-wide association studies dissect the genetic networks underlying agronomical traits in soybean
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65. Circulating Cell-Free DNA Enables Noninvasive Diagnosis of Heart Transplant Rejection
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67. A Werner syndrome stem cell model unveils heterochromatin alterations as a driver of human aging
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70. Discovery of common and rare genetic risk variants for colorectal cancer
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72. The GEM mapper: fast, accurate and versatile alignment by filtration
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73. Convergent loss of PTEN leads to clinical resistance to a PI(3)Kα inhibitor
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74. Uncovering hidden variation in polyploid wheat
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77. Severe Acute Respiratory Syndrome Coronavirus 2 from Patient with Coronavirus Disease, United States
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78. Proteogenomic Characterization of Endometrial Carcinoma
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80. Bacterial Vesicles in Marine Ecosystems
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81. Relapsed neuroblastomas show frequent RAS-MAPK pathway mutations
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82. The genome of the offspring of a Neanderthal mother and a Denisovan father
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83. Safety and feasibility of CRISPR-edited T cells in patients with refractory non-small-cell lung cancer
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84. Single-stranded DNA library preparation for the sequencing of ancient or damaged DNA
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85. Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci
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86. Characterization of ancient and modern genomes by SNP detection and phylogenomic and metagenomic analysis using PALEOMIX
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87. Epigenomic reprogramming during pancreatic cancer progression links anabolic glucose metabolism to distant metastasis
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88. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
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89. Adaptive Chromatin Remodeling Drives Glioblastoma Stem Cell Plasticity and Drug Tolerance
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90. Fast Mapping of Short Sequences with Mismatches, Insertions and Deletions Using Index Structures
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91. Whole-exome sequencing of circulating tumor cells provides a window into metastatic prostate cancer
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92. Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes
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93. DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load
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94. A single-cell atlas of chromatin accessibility in the human genome
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95. High-Throughput Detection of Actionable Genomic Alterations in Clinical Tumor Samples by Targeted, Massively Parallel Sequencing
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