Cargando…
The ExAC browser: displaying reference data information from over 60 000 exomes
Worldwide, hundreds of thousands of humans have had their genomes or exomes sequenced, and access to the resulting data sets can provide valuable information for variant interpretation and understanding gene function. Here, we present a lightweight, flexible browser framework to display large popula...
Autores principales: | Karczewski, Konrad J., Weisburd, Ben, Thomas, Brett, Solomonson, Matthew, Ruderfer, Douglas M., Kavanagh, David, Hamamsy, Tymor, Lek, Monkol, Samocha, Kaitlin E., Cummings, Beryl B., Birnbaum, Daniel, Daly, Mark J., MacArthur, Daniel G. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210650/ https://www.ncbi.nlm.nih.gov/pubmed/27899611 http://dx.doi.org/10.1093/nar/gkw971 |
Ejemplares similares
-
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes
por: Ruderfer, Douglas M., et al.
Publicado: (2016) -
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects
por: Zou, James, et al.
Publicado: (2016) -
Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools
por: Vasiljevic, Eva, et al.
Publicado: (2019) -
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence
por: Clark, Wyatt T., et al.
Publicado: (2018) -
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation
por: Kobayashi, Yuya, et al.
Publicado: (2017)