The Landscape of Genomic Structural Variation in Indigenous Australians
Nature, 2023 Population-scale whole-genome sequencing across four remote Indigenous Australian communities reveals a large fraction of structural variants that are unique to these populations, emphasizing the genetic distinctiveness of and diversity among Indigenous ...
Misty Jenkins +2 more
exaly +2 more sources
An Integrated Map of Structural Variation in 2,504 Human Genomes
Nature, 2015 Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which we
Madhusudan Gujral +2 more
exaly +2 more sources
Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato
Cell, 2020 SUMMARY Structural variants (SVs) underlie important crop improvement and domestication traits. However, resolving the extent, diversity, and quantitative impact of SVs has been challenging. We used long-read nanopore sequencing to capture 238,490 SVs in
Lara Pereira +2 more
exaly +2 more sources
Unscrambling cancer genomes via integrated analysis of structural variation and copy number
Cell Genomics, 2022 Summary: Complex somatic genomic rearrangements and copy number alterations are hallmarks of nearly all cancers. We have developed an algorithm, LINX, to aid interpretation of structural variant and copy number data derived from short-read, whole-genome ...
Charles Shale +7 more
doaj +2 more sources
Mapping and Characterization of Structural Variation in 17,795 Human Genomes
Nature, 2020 A key goal of whole-genome sequencing for studies of human genetics is to interrogate all forms of variation, including single-nucleotide variants, small insertion or deletion (indel) variants and structural variants. However, tools and resources for the
Susan K Dutcher +2 more
exaly +2 more sources
Population Structure, Stratification, and Introgression of Human Structural Variation
Cell, 2020 Summary Structural variants contribute substantially to genetic diversity and are important evolutionarily and medically, but they are still understudied.
Javier Prado-martinez +2 more
exaly +2 more sources
SIns: A Novel Insertion Detection Approach Based on Soft-Clipped Reads
Frontiers in Genetics, 2021 As a common type of structural variation, an insertion refers to the addition of a DNA sequence into an individual genome and is usually associated with some inherited diseases.
Chaokun Yan +5 more
doaj +1 more source
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
Science, 2021 Resolving genomic structural variation Many human genomes have been reported using short-read technology, but it is difficult to resolve structural variants (SVs) using these data.
Peter Ebert +64 more
semanticscholar +1 more source
Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs
Nature Communications, 2021 Variable number tandem repeats (VNTRs) are difficult to analyze by short-read sequencing in disease studies. Here, the authors describe a VNTR mapping strategy for short-read analyses using a repeat pangenome graph.
Tsung-Yu Lu +2 more
doaj +1 more source
JBrowse 2: a modular genome browser with views of synteny and structural variation
bioRxiv, 2022 We present JBrowse 2, a general-purpose genome annotation browser offering enhanced visualization of complex structural variation and evolutionary relationships.
Colin M. Diesh +19 more
semanticscholar +1 more source