Benchmarking of small and large variants across tandem repeats

Abstract excerpt

Tandem repeats (TRs) are highly polymorphic in the human genome, have thousands of associated molecular traits, and are linked to over 60 disease phenotypes. However, their complexity often excludes them from at-scale studies due to challenges with variant calling, representation, and lack of a genome-wide standard. To promote TR methods development, we create a comprehensive catalog of TR regions and explore its...

Topics

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• Algorithms
• Databases, Genetic
• Genetic Variation
• Genome, Human
• Genotype
• Polymorphism, Single Nucleotide
• Tandem Repeat Sequences
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

63b58938-2d15-57fd-9090-1607e4702617

DOI

10.1101/2023.10.29.564632