Structural variation in the sequencing era.
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ABSTRACT:
SUBMITTER: Ho SS
PROVIDER: S-EPMC7402362 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Publications
Structural variation in the sequencing era.
Ho Steve S SS Urban Alexander E AE Mills Ryan E RE
Nature reviews. Genetics 20191115 3
Identifying structural variation (SV) is essential for genome interpretation but has been historically difficult due to limitations inherent to available genome technologies. Detection methods that use ensemble algorithms and emerging sequencing technologies have enabled the discovery of thousands of SVs, uncovering information about their ubiquity, relationship to disease and possible effects on biological mechanisms. Given the variability in SV type and size, along with unique detection biases ...[more]
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