Cargando…
A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative
PURPOSE: Sixty-75% of individuals with rare and undiagnosed phenotypes remain undiagnosed after whole exome sequencing (ES). With standard ES reanalysis resolving 10–15% of the ES negatives, further approaches are necessary to maximize diagnoses in these individuals. METHODS: In 38 ES negative patie...
Autores principales: | Shashi, Vandana, Schoch, Kelly, Spillmann, Rebecca, Cope, Heidi, Tan, Queenie K.-G., Walley, Nicole, Pena, Loren, McConkie-Rosell, Allyn, Jiang, Yong-Hui, Stong, Nicholas, Need, Anna C., Goldstein, David B. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295275/ https://www.ncbi.nlm.nih.gov/pubmed/29907797 http://dx.doi.org/10.1038/s41436-018-0044-2 |
Ejemplares similares
-
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses
por: Schoch, Kelly, et al.
Publicado: (2020) -
A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network
por: Spillmann, Rebecca C., et al.
Publicado: (2017) -
Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1
por: Schoch, Kelly, et al.
Publicado: (2023) -
Characteristics of undiagnosed diseases network applicants: implications for referring providers
por: Walley, Nicole M., et al.
Publicado: (2018) -
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
por: Pena, Loren DM, et al.
Publicado: (2017)