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OpenCRAVAT, an open source collaborative platform for the annotation of human genetic variation
[article]
2019
bioRxiv
pre-print
PURPOSE: The modern researcher is confronted with hundreds of published methods to interpret genetic variants. There are databases of genes and variants, phenotype-genotype relationships, algorithms that score and rank genes, and in silico variant effect prediction tools. Because variant prioritization is a multi-factorial problem, a welcome development in the field has been the emergence of decision support frameworks, which make it easier to integrate multiple resources in an interactive
doi:10.1101/794297
fatcat:yfnu3jvmxvd3rjeren5esolt44