#Training in High-Throughput #Sequencing: Common #Guidelines to Enable #Material Sharing, Dissemination, and Reusability http://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1004937
The aim of this program suite is to support checks of #Sequence #Variant #Nomenclature according to the guidelines of the #Human #Genome #Variation Society. https://www.mutalyzer.nl/