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.
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Hui Y. Xiong, et.al.
The human splicing code reveals new insights into the genetic determinants of disease.
Science DOI: 10.1126/science.1254806. Published Online December 18 2014.