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GeneVetter: a web tool for quantitative monogenic assessment of rare diseases
Summary: When performing DNA sequencing to diagnose affected individuals with monogenic forms of rare diseases, accurate attribution of causality to detected variants is imperative but imperfect. Even if a gene has variants already known to cause a disease, rare disruptive variants predicted to be c...
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| Foilsithe in: | Bioinformatics |
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| Main Authors: | , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Oxford University Press
2015
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4643620/ https://ncbi.nlm.nih.gov/pubmed/26209433 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btv432 |
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