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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). +
++ Short-read genotyping methods +
+ Short-read novel locus detection methods +
+ Long-read genotyping methods +
+
+
+ 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. +
++ 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. +
++ 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. +
+ +