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

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

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) p...

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Bibliographic Details
Main Authors: Linea Christine Trudsø, Jeppe Dyrberg Andersen, Stine Bøttcher Jacobsen, Sofie Lindgren Christiansen, Clàudia Congost-Teixidor, Marie-Louise Kampmann, Niels Morling
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0239850

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