Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Differential Methylation in the GSTT1 Regulatory Region in Sudden Unexplained Death and Sudden Unexpected Death in Epilepsy
por: Christiansen, Steffan Noe, et al.
Publicado: (2021) -
Comparison of whole transcriptome sequencing of fresh, frozen, and formalin-fixed, paraffin-embedded cardiac tissue
por: Jacobsen, Stine Bøttcher, et al.
Publicado: (2023) -
Fresh and frozen cardiac tissue are comparable in DNA methylation array β-values, but formalin-fixed, paraffin-embedded tissue may overestimate DNA methylation levels
por: Dupont, Mikkel Eriksen, et al.
Publicado: (2023) -
Reproducibility of the Infinium methylationEPIC BeadChip assay using low DNA amounts
por: Christiansen, Steffan Noe, et al.
Publicado: (2022) -
Quantification of massively parallel sequencing libraries – a comparative study of eight methods
por: Hussing, Christian, et al.
Publicado: (2018)