Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network
Author:
Funder
National Institutes of Health
Office of Strategic Coordination
Vanderbilt University
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference116 articles.
1. Targeted capture and massively parallel sequencing of 12 human exomes;Ng;Nature,2009
2. Finding disease variants in Mendelian disorders by using sequence data: methods and applications;Ionita-Laza;Am. J. Hum. Genet.,2011
3. Exome sequencing identifies the cause of a mendelian disorder;Ng;Nat. Genet.,2010
4. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases;Boycott;Am. J. Hum. Genet.,2017
5. The Genetic Basis of Mendelian Phenotypes: Discoveries;Chong,2015
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