DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders

In contrast to recessive conditions with biallelic inheritance, identification of dominant (monoallelic) mutations for Mendelian disorders is more difficult, because of the abundance of benign heterozygous variants that act as massive background noise (typically, in a 400:1 excess ratio). To reduce...

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Bibliografische gegevens
Gepubliceerd in:Am J Hum Genet
Hoofdauteurs: Quinodoz, Mathieu, Royer-Bertrand, Beryl, Cisarova, Katarina, Di Gioia, Silvio Alessandro, Superti-Furga, Andrea, Rivolta, Carlo
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2017
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5630195/
https://ncbi.nlm.nih.gov/pubmed/28985496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.09.001
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