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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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Detalles Bibliográficos
Autores principales:	Trudsø, Linea Christine, Andersen, Jeppe Dyrberg, Jacobsen, Stine Bøttcher, Christiansen, Sofie Lindgren, Congost-Teixidor, Clàudia, Kampmann, Marie-Louise, Morling, Niels
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521702/ https://www.ncbi.nlm.nih.gov/pubmed/32986766 http://dx.doi.org/10.1371/journal.pone.0239850

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