All Stories

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