Interpretable Clinical Genomics with a Likelihood Ratio Paradigm
Author:
Funder
National Institutes of Health
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference56 articles.
1. eXtasy: variant prioritization by genomic data fusion;Sifrim;Nat. Methods,2013
2. Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families;Singleton;Am. J. Hum. Genet.,2014
3. Phen-Gen: combining phenotype and genotype to analyze rare disorders;Javed;Nat. Methods,2014
4. Next-generation diagnostics and disease-gene discovery with the Exomiser;Smedley;Nat. Protoc.,2015
5. A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases;Miller;Genome Med.,2015
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