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Article

A comparative study of single nucleotide variant detection performance using three massively parallel sequencing methods.

PloS one - 1 Jan 2020

Trudsø Linea Christine, Andersen Jeppe Dyrberg, Jacobsen Stine Bøttcher, Christiansen Sofie Lindgren, Congost-Teixidor Clàudia, Kampmann Marie-Louise, Morling Niels

Abstract excerpt

Massively parallel sequencing (MPS) has revolutionised clinical genetics and research within human genetics by enabling the detection of variants in multiple genes in several samples at the same time. Today, multiple approaches for MPS of DNA are available, including targeted gene sequencing (TGS) panels, whole exome sequencing (WES), and whole genome sequencing (WGS). As MPS is becoming an integrated part of the...

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Identifiers

PMID: 32986766
DOI: 10.1371/journal.pone.0239850
PMCID: PMC7521702

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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