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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Publicat a:PLoS One
Autors principals: Trudsø, Linea Christine, Andersen, Jeppe Dyrberg, Jacobsen, Stine Bøttcher, Christiansen, Sofie Lindgren, Congost-Teixidor, Clàudia, Kampmann, Marie-Louise, Morling, Niels
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2020
Matèries:
Research Article
Accés en línia: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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