Haplotype-resolved diverse human genomes and integrated analysis of structural variation

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Items 101–200 of 725

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13. A 25-year odyssey of genomic technology advances and structural variant discovery
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17. Toward clinical long-read genome sequencing for rare diseases
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18. Local adaptation and archaic introgression shape global diversity at human structural variant loci
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19. Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases
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25. Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes
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27. Characterizing mobile element insertions in 5675 genomes
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28. Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall
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29. Structural polymorphism and diversity of human segmental duplications
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30. Unraveling the Genetic Landscape of Neurological Disorders: Insights into Pathogenesis, Techniques for Variant Identification, and Therapeutic Approaches
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31. Using de novo assembly to identify structural variation of eight complex immune system gene regions
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32. INSurVeyor: improving insertion calling from short read sequencing data
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33. The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases
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34. Single-haplotype comparative genomics provides insights into lineage-specific structural variation during cat evolution
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35. Rare variants and the oligogenic architecture of autism
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36. Pangenome-genotyped structural variation improves molecular phenotype mapping in cattle
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37. Functional analysis of structural variants in single cells using Strand-seq
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38. Pangenome Graph Construction from Genome Alignment with Minigraph-Cactus
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39. SVDSS: structural variation discovery in hard-to-call genomic regions using sample-specific strings from accurate long reads
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40. Unravelling inversions: Technological advances, challenges, and potential impact on crop breeding
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41. Protein-altering variants at copy number-variable regions influence diverse human phenotypes
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42. Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation
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43. Structural variants involved in high-altitude adaptation detected using single-molecule long-read sequencing
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44. Mapping and functional characterization of structural variation in 1060 pig genomes
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45. Hidden biases in germline structural variant detection
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46. SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing
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47. Recent advances and current challenges in population genomics of structural variation in animals and plants
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48. Insertions and Deletions: Computational Methods, Evolutionary Dynamics, and Biological Applications
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49. Parent-of-origin detection and chromosome-scale haplotyping using long-read DNA methylation sequencing and Strand-seq
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50. A butterfly pan-genome reveals that a large amount of structural variation underlies the evolution of chromatin accessibility
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51. The landscape of human SVA retrotransposons
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52. De novo and somatic structural variant discovery with SVision-pro
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53. Sawfish: improving long-read structural variant discovery and genotyping with local haplotype modeling
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54. Structural variants in the 3D genome as drivers of disease
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55. Inversion polymorphism in a complete human genome assembly
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56. Adaptation repeatedly uses complex structural genomic variation
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57. Complete sequences of six major histocompatibility complex haplotypes, including all the major MHC class II structures
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61. Haplotype-resolved assembly of a tetraploid potato genome using long reads and low-depth offspring data
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72. Are we there yet? Driving the road to evolutionary graph-pangenomics
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73. Computational and experimental methods for classifying variants of unknown clinical significance.
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74. Rare germline structural variants increase risk for pediatric solid tumors
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75. Dynamic Interplay between Structural Variations and 3D Genome Organization in Pancreatic Cancer
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86. Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact
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87. Comprehensive and deep evaluation of structural variation detection pipelines with third-generation sequencing data
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88. Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeats
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89. Structural variation across 138,134 samples in the TOPMed consortium
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90. Long-read technologies identify a hidden inverted duplication in a family with choroideremia
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91. Combined use of Oxford Nanopore and Illumina sequencing yields insights into soybean structural variation biology
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92. Analysis of structural variation among inbred mouse strains
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94. GREGoR: accelerating genomics for rare diseases
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95. Structural variants identified using non-Mendelian inheritance patterns advance the mechanistic understanding of autism spectrum disorder
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96. Characterization of large-scale genomic differences in the first complete human genome
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97. Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes
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98. A haplotype-resolved gap-free genome assembly provides novel insight into monoterpenoid diversification in Mentha suaveolens ‘Variegata’
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99. Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B
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100. Mutagenesis of human genomes by endogenous mobile elements on a population scale
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