Article
Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb.
Human mutation - 1 Aug 2016
Tan Powell Patrick Cheng, Rogic Sanja, Zoubarev Anton, McDonald Cameron, Lui Frances, Charathsandran Gayathiri, Jacobson Matthew, Belmadani Manuel, Leong Justin, Van Rossum Thea, Portales-Casamar Elodie, Qiao Ying, Calli Kristina, Liu Xudong, Hudson Melissa, Rajcan-Separovic Evica, Lewis Me Suzanne, Pavlidis Paul
Abstract excerpt
Identifying variants causal for complex genetic disorders is challenging. With the advent of whole-exome and whole-genome sequencing, computational tools are needed to explore and analyze the list of variants for further validation. Correlating genetic variants with subject phenotype is crucial for the interpretation of the disease-causing mutations. Often such work is done by teams of researchers who need to...
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