An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease–related patterns

More than 90% of genetic variants are rare in most modern sequencing studies, such as the Alzheimer's Disease Sequencing Project (ADSP) whole-exome sequencing (WES) data. Furthermore, 54% of the rare variants in ADSP WES are singletons. However, both single variant and unit-based tests are limi...

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Detalles Bibliográficos
Autores principales: Jin, Bowen, Capra, John A., Benchek, Penelope, Wheeler, Nicholas, Naj, Adam C., Hamilton-Nelson, Kara L., Farrell, John J., Leung, Yuk Yee, Kunkle, Brian, Vadarajan, Badri, Schellenberg, Gerard D., Mayeux, Richard, Wang, Li-San, Farrer, Lindsay A., Pericak-Vance, Margaret A., Martin, Eden R., Haines, Jonathan L., Crawford, Dana C., Bush, William S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8997344/
https://www.ncbi.nlm.nih.gov/pubmed/35210353
http://dx.doi.org/10.1101/gr.276069.121

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8997344/
https://www.ncbi.nlm.nih.gov/pubmed/35210353
http://dx.doi.org/10.1101/gr.276069.121

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