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Computational methods

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+ A selection of computational methods that we have either developed or + used in our research. For a more comprehensive review of methods, see + + Tanudisastro et al. (2024). +

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+ Short-read genotyping methods +

  • ExpansionHunter
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  • HipSTR
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  • gangSTR
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    + Short-read novel locus detection methods +

  • STRling
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  • ExpansionHunter Denovo
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    + Long-read genotyping methods +

  • TRGT
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  • TRGT-denovo
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    Why do repeat locus definitions differ between resources?

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    + There are often multiple ways to define a given repeat locus. For example, + defining a locus as a stretch of perfectly repeting motifs tends to result in + a narrower locus than strategies allowing for interruptions. In coding regions the + locus boundary might be chosen to align with the reading frame. +

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    + There are often multiple "correct" ways to define a given repeat locus, however + careful consideration must be made to the downstream uses of the data. + In particular, genotyping accuracy can be affected by the choice of locus definition. +

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    + The loci in STRchive were defined to be broader, allowing for interruptions, and + with consideration to the biological context and clinical utility of the locus. + This strategy increases the chance that the locus will overlap with a relevant + variant call when STRchive is used to annotate a VCF file. It is also the preferred + approach to defining loci for improved genotyping accuracy with + TRGT. + In contrast, + ExpansionHunter + tends to perform better with narrower loci that + exclude repeat interruptions. For this reason, repeat definitions used in + gnomAD + tend to be narrower than those used in STRchive. +

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