A framework for the interpretation of de novo mutation in human disease
Broad Institute · Harvard University · +17 more institutions
Indexed incrossrefpubmed
Abstract
No abstract available for this paper.
Citation impact
1,121
total citations
- FWCI
- 78.37
- Percentile
- 100%
- References
- 26
Citations per year
Authors
26- KEKaitlin E. SamochaCorresponding
Broad Institute, Harvard University, Massachusetts General Hospital
- ERElise Robinson
Broad Institute, Harvard University, Massachusetts General Hospital
- SSStephan Sanders
Yale University
- CSChristine Stevens
Broad Institute
- ASAniko Sabo
Baylor College of Medicine, Baylor Genetics
Topics & keywords
Topics
Keywords
- Biology
- Genetics
- Loss function
- Gene
- Locus (genetics)
- Mutation
- Locus heterogeneity
- Phenotype
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