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SV-STAT accurately detects structural variation via alignment to reference-based assemblies. Source Code Biol Med. 2016 ;11:8..
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Poster Session Abstract
Generating Clinical Reports from Genomic Data on the Cloud-based Neptune Platform [Internet]. Phoenix: ACMG Annual Clinical Genetics Meeting 2017; 2017. http://epostersonline.com/acmg2017/node/2480.