Annotation of functional variation in personal genomes using RegulomeDB

As the sequencing of healthy and disease genomes becomes more commonplace, detailed annotation provides interpretation for individual variation responsible for normal and disease phenotypes. Current approaches focus on direct changes in protein coding genes, particularly nonsynonymous mutations that...

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Detalles Bibliográficos
Autores principales: Boyle, Alan P., Hong, Eurie L., Hariharan, Manoj, Cheng, Yong, Schaub, Marc A., Kasowski, Maya, Karczewski, Konrad J., Park, Julie, Hitz, Benjamin C., Weng, Shuai, Cherry, J. Michael, Snyder, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2012
Materias:
Resource
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431494/
https://www.ncbi.nlm.nih.gov/pubmed/22955989
http://dx.doi.org/10.1101/gr.137323.112

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431494/
https://www.ncbi.nlm.nih.gov/pubmed/22955989
http://dx.doi.org/10.1101/gr.137323.112

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