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Article

Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.

American journal of human genetics - 7 Oct 2021

Mukherjee Souhrid, Cogan Joy D, Newman John H, Phillips John A, Hamid Rizwan, Meiler Jens, Capra John A

Abstract excerpt

Rare diseases affect millions of people worldwide, and discovering their genetic causes is challenging. More than half of the individuals analyzed by the Undiagnosed Diseases Network (UDN) remain undiagnosed. The central hypothesis of this work is that many of these rare genetic disorders are caused by multiple variants in more than one gene. However, given the large number of variants in each individual genome,...

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Identifiers

PMID: 34529933
DOI: 10.1016/j.ajhg.2021.08.010
PMCID: PMC8546038

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