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17 days ago

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Analysis and benchmarking of small and large genomic variants across tandem repeats - Nature Biotechnology

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Analysis and benchmarking of small and large genomic variants across tandem repeats - Nature Biotechnology

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, they are often excluded from at-scale studies because of challenges with variant calling and representation, as well as a lack of a genome-wide standard. Here, to promote the development of TR methods, we created a catalog of TR regions and explored TR properties across 86 haplotype-resolved long-read human assemblies.

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Analysis and benchmarking of small and large genomic variants across tandem repeats - Nature Biotechnology

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Analysis and benchmarking of small and large genomic variants across tandem repeats - Nature Biotechnology

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