Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using t...
Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using the cardiovascular risk gene LPA as a model
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England: BioMed Central Ltd
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English
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England: BioMed Central Ltd
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Variable number tandem repeats (VNTRs) are highly polymorphic DNA regions harboring many potentially disease-causing variants. However, VNTRs often appear unresolved ("dark") in variation databases due to their repetitive nature. One particularly complex and medically relevant VNTR is the KIV-2 VNTR located in the cardiovascular disease gene LPA wh...
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Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using the cardiovascular risk gene LPA as a model
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TN_cdi_doaj_primary_oai_doaj_org_article_ab698e52e0a648398768a97a206a0fb1
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ab698e52e0a648398768a97a206a0fb1
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1474-760X,1474-7596
E-ISSN
1474-760X
DOI
10.1186/s13059-024-03316-5
