SAT0015 Novel and rare mutations linked to polyautoimmunity
Background Polyautoimmunity (i.e., the presence of two or more autoimmune diseases in a single patient) and familial autoimmunity (i.e., diverse autoimmune diseases in a nuclear family) represent extreme phenotypes ideal for identifying major genomic variants contributing to autoimmunity (1–3). Whol...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2016
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/26495
- Acceso en línea:
- https://doi.org/10.1136/annrheumdis-2016-eular.2163
https://repository.urosario.edu.co/handle/10336/26495
- Palabra clave:
- Polyautoimmunity
autoimmune diseases
extreme phenotypes
- Rights
- License
- http://purl.org/coar/access_right/c_14cb
| Summary: | Background Polyautoimmunity (i.e., the presence of two or more autoimmune diseases in a single patient) and familial autoimmunity (i.e., diverse autoimmune diseases in a nuclear family) represent extreme phenotypes ideal for identifying major genomic variants contributing to autoimmunity (1–3). Whole Exome Sequencing (WES) and linkage analysis are well suited for this purpose due to its strong resolution upon familial segregation patterns of functional protein coding and splice variants |
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