Nature Reviews Genetics 18, 599 (2017). doi:10.1038/nrg.2017.52
Authors: Karen Eilbeck, Aaron Quinlan & Mark Yandell
When investigating Mendelian disease using exome or genome sequencing, distinguishing disease-causing genetic variants from the multitude of candidate variants is a complex, multidimensional task. Many prioritization tools and online interpretation resources exist, and professional organizations have offered clinical guidelines for review and return of prioritization
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