All Stories

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