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Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases

Rare genetic disorders, which can now be studied systematically with affordable genome sequencing, are often caused by high-penetrance rare variants. Such disorders are often heterogeneous and characterized by abnormalities spanning multiple organ systems ascertained with variable clinical precision...

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Podrobná bibliografie
Vydáno v:Am J Hum Genet
Hlavní autoři: Greene, Daniel, Richardson, Sylvia, Turro, Ernest
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2016
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4827100/
https://ncbi.nlm.nih.gov/pubmed/26924528
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.01.008
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