What is the eGenomics Catalogue?
Splicing-based Analysis of Variants (SPANR) Hot
Written by Kim Gurwitz
April 01, 2016
H3Africa Topics (Categories)
Bioinformatics Topics (EDAM Ontology)
"SPANR addresses a key unmet challenge in genomics research, which is to ascertain how single nucleotide variations (SNVs) cause splicing misregulation and may lead to disease. Unlike any other approach, this tool can analyze synonymous, missense and nonsense exonic SNVs, as well as intronic SNVs that are up to 300nt from splice junctions." - from the SPANR website
"SPANR addresses a key unmet challenge in genomics research, which is to ascertain how single nucleotide variations (SNVs) cause splicing misregulation and may lead to disease. Unlike any other approach, this tool can analyze synonymous, missense and nonsense exonic SNVs, as well as intronic SNVs that are up to 300nt from splice junctions." - from the SPANR website
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