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Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases
Copy number variations (CNVs) are genomic structural variations (deletions, duplications, or translocations) that represent the 4.8–9.5% of human genome variation in healthy individuals. In some cases, CNVs can also lead to disease, being the etiology of many known rare genetic/genomic disorders. De...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer International Publishing
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138686/ https://www.ncbi.nlm.nih.gov/pubmed/29946186 http://dx.doi.org/10.1038/s41431-018-0139-x |