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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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| Vydáno v: | Am J Hum Genet |
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| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Elsevier
2016
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| 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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