A comparison of structural variant calling from short-read and nanopore-based whole-genome sequencing using optical genome mapping as a benchmark

A comparison of structural variant calling from short-read and nanopore-based whole-genome sequencing using optical genome mapping as a benchmark

The identification of structural variants (SVs) in genomic data represents an ongoing challenge because of difficulties in reliable SV calling leading to reduced sensitivity and specificity. We prepared high-quality DNA from 9 parent–child trios, who had previously undergone short-read whole-genome...

Ausführliche Beschreibung

Bibliographische Detailangaben
Hauptverfasser: Pei, Y, Tanguy, M, Giess, A, Dixit, A, Wilson, LC, Gibbons, RJ, Twigg, SRF, Elgar, G, Wilkie, AOM
Format: Journal article
Sprache:English
Veröffentlicht: MDPI 2024

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