All Stories

  1. The benefit of a complete reference genome for cancer structural variant analysis
  2. Improved sequence mapping using a complete reference genome and lift-over
  3. Sniffles2 methods v1
  4. Single-cell somatic copy number variants in brain using different amplification methods and reference genomes
  5. Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes
  6. MethPhaser: methylation-based haplotype phasing of human genomes
  7. Inference of phylogenetic trees directly from raw sequencing reads using Read2Tree
  8. Variant calling and benchmarking in an era of complete human genome sequences
  9. Impact and characterization of serial structural variations across humans and great apes
  10. Multiscale Analysis of Pangenome Enables Improved Representation of Genomic Diversity For Repetitive And Clinical Relevant Genes
  11. Fixing reference errors efficiently improves sequencing results
  12. Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene
  13. A pan-genome approach to decipher variants in the highly complex tandem repeat of LPA
  14. Author Correction: Searching thousands of genomes to classify somatic and novel structural variants using STIX
  15. The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms
  16. Improved sequence mapping using a complete reference genome and lift-over
  17. Read2Tree: scalable and accurate phylogenetic trees from raw reads
  18. Searching thousands of genomes to classify somatic and novel structural variants using STIX
  19. A complete reference genome improves analysis of human genetic variation
  20. Rescuing low frequency variants within intra-host viral populations directly from Oxford Nanopore sequencing data
  21. Truvari: Refined Structural Variant Comparison Preserves Allelic Diversity
  22. Accurate profiling of forensic autosomal STRs using the Oxford Nanopore Technologies MinION device
  23. Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus
  24. Hidden biases in germline structural variant detection
  25. Comprehensive analysis of GBA using a novel algorithm for Illumina whole-genome sequence data or targeted Nanopore sequencing
  26. Investigation of product-derived lymphoma following infusion of piggyBac-modified CD19 chimeric antigen receptor T cells
  27. Author Correction: Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study
  28. High resolution copy number inference in cancer using short-molecule nanopore sequencing
  29. PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation
  30. Rescuing Low Frequency Variants within Intra-Host Viral Populations directly from Oxford Nanopore sequencing data
  31. An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates
  32. Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment
  33. Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study
  34. Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals
  35. A strategy for building and using a human reference pangenome
  36. Fully resolved assembly of Cryptosporidium parvum
  37. Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus
  38. Accurate profiling of forensic autosomal STRs using the Oxford Nanopore Technologies MinION device
  39. Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal Genes
  40. Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment
  41. Towards population-scale long-read sequencing
  42. The complete sequence of a human genome
  43. Author Correction: Discovery and population genomics of structural variation in a songbird genus
  44. Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease
  45. Mining Thousands of Genomes to Classify Somatic and Pathogenic Structural Variants
  46. SVhound: Detection of future Structural Variation hotspots
  47. Optimized sample selection for cost-efficient long-read population sequencing
  48. muCNV: genotyping structural variants for population-level sequencing
  49. Shotgun transcriptome, spatial omics, and isothermal profiling of SARS-CoV-2 infection reveals unique host responses, viral diversification, and drug interactions
  50. SARS-CoV-2 genomic diversity and the implications for qRT-PCR diagnostics and transmission
  51. High resolution copy number inference in cancer using short-molecule nanopore sequencing
  52. Oligonucleotide Capture Sequencing of the SARS-CoV-2 Genome and Subgenomic Fragments from COVID-19 Individuals
  53. Chromosome-scale, haplotype-resolved assembly of human genomes
  54. Parliament2: Accurate structural variant calling at scale
  55. Simultaneous profiling of chromatin accessibility and methylation on human cell lines with nanopore sequencing
  56. precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions
  57. Complex mosaic structural variations in human fetal brains
  58. A diploid assembly-based benchmark for variants in the major histocompatibility complex
  59. Methods developed during the first National Center for Biotechnology Information Structural Variation Codeathon at Baylor College of Medicine
  60. Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing
  61. SVCollector: Optimized sample selection for cost-efficient long-read population sequencing
  62. Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals
  63. Benchmarking challenging small variants with linked and long reads
  64. Multi-Platform Assessment of DNA Sequencing Performance using Human and Bacterial Reference Genomes in the ABRF Next-Generation Sequencing Study
  65. Author Correction: A robust benchmark for detection of germline large deletions and insertions
  66. Discovery and population genomics of structural variation in a songbird genus
  67. Hidden genomic diversity of SARS-CoV-2: implications for qRT-PCR diagnostics and transmission
  68. PhaseME: Automatic rapid assessment of phasing quality and phasing improvement
  69. Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato
  70. A robust benchmark for detection of germline large deletions and insertions
  71. Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes
  72. Multiethnic catalog of structural variants and their translational impact for disease phenotypes across 19,652 genomes
  73. Shotgun Transcriptome and Isothermal Profiling of SARS-CoV-2 Infection Reveals Unique Host Responses, Viral Diversification, and Drug Interactions
  74. Targeted nanopore sequencing with Cas9-guided adapter ligation
  75. Paragraph: a graph-based structural variant genotyper for short-read sequence data
  76. Structural variant calling: the long and the short of it
  77. Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencing
  78. Approaches to Whole Mitochondrial Genome Sequencing on the Oxford Nanopore MinION
  79. The population genomics of structural variation in a songbird genus
  80. A Genocentric Approach to Discovery of Mendelian Disorders
  81. RaGOO: fast and accurate reference-guided scaffolding of draft genomes
  82. Accurate chromosome-scale haplotype-resolved assembly of human genomes
  83. A strategy for building and using a human reference pangenome
  84. Evaluation of computational genotyping of structural variation for clinical diagnoses
  85. Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
  86. Efficient de novo assembly of eleven human genomes using PromethION sequencing and a novel nanopore toolkit
  87. Author Correction: Duplication of a domestication locus neutralized a cryptic variant that caused a breeding barrier in tomato
  88. A robust benchmark for germline structural variant detection
  89. Ancestral Admixture Is the Main Determinant of Global Biodiversity in Fission Yeast
  90. Paragraph: A graph-based structural variant genotyper for short-read sequence data
  91. Duplication of a domestication locus neutralized a cryptic variant that caused a breeding barrier in tomato
  92. Targeted Nanopore Sequencing with Cas9 for studies of methylation, structural variants and mutations
  93. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel
  94. A multi-task convolutional deep neural network for variant calling in single molecule sequencing
  95. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2
  96. Evaluation of computational genotyping of Structural Variations for clinical diagnoses.
  97. Combined transcriptome and proteome profiling reveals specific molecular brain signatures for sex, maturation and circalunar clock phase
  98. Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION
  99. Fast and accurate reference-guided scaffolding of draft genomes
  100. Highly-accurate long-read sequencing improves variant detection and assembly of a human genome: Supplementary Material
  101. Simultaneous profiling of chromatin accessibility and methylation on human cell lines with nanopore sequencing: Supplemental Figures and Tables
  102. Genome-wide patterns of transposon proliferation in an evolutionary young hybrid fish
  103. Atlas-CNV: a validated approach to call Single-Exon CNVs in the eMERGESeq gene panel
  104. Parliament2: Fast Structural Variant Calling Using Optimized Combinations of Callers
  105. Ancestral admixture and structural mutation define global biodiversity in fission yeast
  106. Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line
  107. SVCollector: Optimized sample selection for validating and long-read resequencing of structural variants
  108. Accurate detection of complex structural variations using single-molecule sequencing
  109. Clairvoyante: a multi-task convolutional deep neural network for variant calling in Single Molecule Sequencing
  110. xAtlas: Scalable small variant calling across heterogeneous next-generation sequencing experiments
  111. Piercing the dark matter: bioinformatics of long-range sequencing and mapping
  112. Detection of GBA missense mutations and other variants using the Oxford Nanopore MinION
  113. Tools for annotation and comparison of structural variation
  114. Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line
  115. Accurate detection of complex structural variations using single molecule sequencing
  116. Copy number increases of transposable elements and protein-coding genes in an invasive fish of hybrid origin
  117. DangerTrack: A scoring system to detect difficult-to-assess regions
  118. GenomeScope: fast reference-free genome profiling from short reads
  119. LRSim: a Linked Reads Simulator generating insights for better genome partitioning
  120. Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast
  121. LRSim: A Linked-Reads Simulator Generating Insights for Better Genome Partitioning
  122. Correction: Chromosomal-Level Assembly of the Asian Seabass Genome Using Long Sequence Reads and Multi-layered Scaffolding
  123. The genomic basis of circadian and circalunar timing adaptations in a midge
  124. SplitThreader: Exploration and analysis of rearrangements in cancer genomes
  125. Phased diploid genome assembly with single-molecule real-time sequencing
  126. GenomeScope: Fast reference-free genome profiling from short reads
  127. Phased Diploid Genome Assembly with Single Molecule Real-Time Sequencing
  128. Chromosomal-Level Assembly of the Asian Seabass Genome Using Long Sequence Reads and Multi-layered Scaffolding
  129. Transient structural variations alter gene expression and quantitative traits in Schizosaccharomyces pombe.
  130. The pineapple genome and the evolution of CAM photosynthesis
  131. Teaser: Individualized benchmarking and optimization of read mapping results for NGS data
  132. The Candida albicans Histone Acetyltransferase Hat1 Regulates Stress Resistance and Virulence via Distinct Chromatin Assembly Pathways
  133. Ectodysplasin signalling genes and phenotypic evolution in sculpins ( Cottus )
  134. Teaser: Individualized benchmarking and optimization of read mapping results for NGS data
  135. Decreased expression of endogenous feline leukemia virus in cat lymphomas: a case control study
  136. ADAR2 induces reproducible changes in sequence and abundance of mature microRNAs in the mouse brain
  137. Corrigendum: Updating benchtop sequencing performance comparison
  138. NextGenMap: fast and accurate read mapping in highly polymorphic genomes
  139. Updating benchtop sequencing performance comparison
  140. Benefit-of-doubt (BOD) scoring: A sequencing-based method for SNP candidate assessment from high to medium read number data sets
  141. Advanced Methylome Analysis after Bisulfite Deep Sequencing: An Example in Arabidopsis
  142. Adenosine deaminases that act on RNA induce reproducible changes in abundance and sequence of embryonic miRNAs