Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases

BACKGROUND: Next-generation sequencing is widely used to identify disease-causing variants in patients with rare genetic disorders. Identifying those variants from whole-genome or exome data can be both scientifically challenging and time consuming. A significant amount of time is spent on variant a...

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Detalles Bibliográficos
Autores principales: Krämer, Andreas, Shah, Sohela, Rebres, Robert Anthony, Tang, Susan, Richards, Daniel Rene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558185/
https://www.ncbi.nlm.nih.gov/pubmed/28812537
http://dx.doi.org/10.1186/s12864-017-3910-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558185/
https://www.ncbi.nlm.nih.gov/pubmed/28812537
http://dx.doi.org/10.1186/s12864-017-3910-4

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