Settling the score: variant prioritization and Mendelian disease
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 hav...
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| Main Authors: | , , |
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| Format: | Text |
| Language: | English |
| Published: |
2017
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| Subjects: | |
| Online Access: | https://pmc.ncbi.nlm.nih.gov/articles/PMC5935497/ https://pubmed.ncbi.nlm.nih.gov/28804138 http://dx.doi.org/10.1038/nrg.2017.52 |
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