Phenotypic impact of genomic structural variation: insights from and for human disease

By J. Weischenfeldt, Orsolya Symmons, F. Spitz, Jan O. Korbel. Nature reviews genetics, 2013

625 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/5312f8fc6a7db1625612733cb18f394afe3517bf

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Citations in the corpus

Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing (2019, background): “Ac-cordingly, SVs are associated with a number of human diseases, including neurodevelopmental disorders and cancers [3, 8 – 11].”
GRIDSS: sensitive and specific genomic rearrangement detection using positional de Bruijn graph assembly (2017, background): “GRIDSS detected 1,051,017 high and low confidence SVs with any level of support.”
Piercing the dark matter: bioinformatics of long-range sequencing and mapping (2018, background): “Structural variation identification and analysis SVs account for the largest number of diverged base pairs across human genomes 60–63 and have been shown to have substantial impacts on evolution (such as gene losses and transposon activity), genomic disorders (such as cancer and autism), gene…”
An integrated map of structural variation in 2,504 human genomes (2015, methodology): “We additionally specifically assessed the complexity of the 29,954 deletions with resolved breakpoints and found that 6% (1,822) intersected another deletion with distinct breakpoints.”
Accurate detection of complex structural variations using single molecule sequencing (2017, positive): “Structural variations (SVs), including insertions, deletions, duplications, inversions and translocations at least 50bp in size, account for the largest number of divergent base-pairs across human genomes 1 .”
SVIM: structural variant identification using mapped long reads (2018, background): “Additionally, SVs are enriched 50-fold for expression quantitative trait loci when compared to SNPs [4].”
The Third Revolution in Sequencing Technology. (2018, background): “This is an important issue, given that SVs are implicated in a number of diseases [9].”
The Sequence of 1504 Mutants in the Model Rice Variety Kitaake Facilitates Rapid Functional Genomic Studies (2017, background): “Structural variants (variants>1 kb) are known to be the cause of some human diseases, such as the well-known Down and Turner syndromes, and are associated with several cancers (Weischenfeldt et al., 2013; Carvalho and Lupski, 2016).”