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Paper Details

Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline.
Hum Mutat
18
2014
WGS, bladder cancer, cancer, gene sets, genes, rare and nonrare diseases, uveal melanoma, variants, whole-exome
Exome, Genome, Human, Genomics, High-Throughput Nucleotide Sequencing, Humans, Internet, Molecular Sequence Annotation, Phenotype, Polymorphism, Single Nucleotide, Software
Author NameAffiliation
In-Hee LeeChildren's Hospital Informatics Program at the Harvard-MIT Division of Health Sciences and Technology, Boston Children's Hospital
In-Hee LeeChildren's Hospital Informatics Program at the Harvard-MIT Division of Health Sciences and Technology, Boston Children's Hospital
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Release 1.2