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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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Trudsø, Linea Christine, Andersen, Jeppe Dyrberg, Jacobsen, Stine Bøttcher, Christiansen, Sofie Lindgren, Congost-Teixidor, Clàudia, Kampmann, Marie-Louise, Morling, Niels
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7521702/
https://ncbi.nlm.nih.gov/pubmed/32986766
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0239850
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