Nanopore Sequencing with Unique Molecular Identifiers Enables Accurate Mutation Analysis and Haplotyping in the Complex Lipoprotein(a) KIV-2 VNTR

Stephan Amstler,Gertraud Streiter, Cathrin Pfurtscheller,Lukas Forer,Silvia Di Maio,Hansi Weissensteiner,Bernhard Paulweber,Sebastian Schönherr,Florian Kronenberg,Stefan Coassin

GENOME MEDICINE（2024）

引用 0|浏览20

关键词

Lipoprotein(a),Copy number variation,CNV,Variable number tandem repeat,VNTR,Nanopore sequencing,UMI,Unique molecular identifiers,Molecular barcodes,DNA sequencing

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