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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2016
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4827100/ https://www.ncbi.nlm.nih.gov/pubmed/26924528 http://dx.doi.org/10.1016/j.ajhg.2016.01.008 |