Cargando…
Clinical application of a phenotype‐based NGS panel for differential diagnosis of inherited kidney disease and beyond
Understanding the genetic causes of kidney disease is essential for accurate diagnosis and could lead to improved therapeutic strategies and prognosis. To accurately and promptly identify the genetic background of kidney diseases, we applied a targeted next‐generation sequencing gene panel including...
Autores principales: | Oh, Jiyoung, Shin, Jae Il, Lee, Keumwha, Lee, CheolHo, Ko, Younhee, Lee, Jin‐Sung |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Blackwell Publishing Ltd
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839754/ https://www.ncbi.nlm.nih.gov/pubmed/33095447 http://dx.doi.org/10.1111/cge.13869 |
Ejemplares similares
-
Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation
por: Cho, Yangrae, et al.
Publicado: (2017) -
Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design
por: Aguilera-Diaz, Almudena, et al.
Publicado: (2020) -
Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation
and potential use in the diagnostic flowchart
por: Brusius-Facchin, Ana Carolina, et al.
Publicado: (2019) -
Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping
por: Gupta, Priya R., et al.
Publicado: (2022) -
Validation of an NGS mutation detection panel for melanoma
por: Reiman, Anne, et al.
Publicado: (2017)