Cargando…
Clinical validity of expanded carrier screening: Evaluating the gene‐disease relationship in more than 200 conditions
Clinical guidelines consider expanded carrier screening (ECS) to be an acceptable method of carrier screening. However, broader guideline support and payer adoption require evidence for associations between the genes on ECS panels and the conditions for which they aim to identify carriers. We applie...
Autores principales: | Balzotti, Marie, Meng, Linyan, Muzzey, Dale, Johansen Taber, Katherine, Beauchamp, Kyle, Curation Team, Myriad Genetics, Curation Team, Baylor Genetics, Mar‐Heyming, Rebecca, Buckley, Bethany, Moyer, Krista |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7496796/ https://www.ncbi.nlm.nih.gov/pubmed/32383249 http://dx.doi.org/10.1002/humu.24033 |
Ejemplares similares
-
Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen
por: Beauchamp, Kyle A., et al.
Publicado: (2019) -
Inter‐lab concordance of variant classifications establishes clinical validity of expanded carrier screening
por: Kaseniit, Kristjan E., et al.
Publicado: (2019) -
Clinical utility of expanded carrier screening: results-guided actionability and outcomes
por: Johansen Taber, Katherine A., et al.
Publicado: (2018) -
Systematic design and comparison of expanded carrier screening panels
por: Beauchamp, Kyle A, et al.
Publicado: (2018) -
Sequencing as a first-line methodology for cystic fibrosis
carrier screening
por: Beauchamp, Kyle A., et al.
Publicado: (2019)