Interlaboratory evaluation of high molecular weight DNA extraction methods for long-read sequencing and structural variant analysis.

ABSTRACT:

Background

Long-read sequencing technologies enable resolution of structural variants (SV) and long-range genome assembly, but require high molecular weight (HMW) DNA of both high quantity and quality to produce optimal sequencing results. New DNA extraction methods have been developed but these have not been assessed for use in routine testing. The interlaboratory study described here tested four commonly used methods: Fire Monkey, Nanobind, Puregene and Genomic-tip with a reference cell line containing known chromosomal alterations. Samples were assessed with commonly applied approaches for evaluating DNA purity and integrity as well as a method based on linkage using digital PCR. Sequencing performance was evaluated and the impact of extraction method on structural variant calli

SUBMITTER: Devonshire AS 

PROVIDER: S-EPMC12305982 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature