Article

OpenCRAVAT, an open source collaborative platform for the annotation of human genetic variation

2019-10-06

Abstract excerpt

<h4>PURPOSE</h4> 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 silic o variant effect prediction tools. Because variant prioritization is a multi-factorial problem, a welcome development in the field has been the emergence of decision su...

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Literature Corpus work: 99b62560-4a7b-5ba8-8a93-4fd2ca252d4c
DOI: 10.1101/794297

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