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When “N of 2” is not enough: integrating statistical and functional data in gene discovery
The expanding use of genomic sequencing promises to improve clinical diagnostics and to drive the discovery of new disease genes. Candidate genes are increasingly being identified through recurrent cases (e.g., two or more independent cases [“N of 2”] in which variants are present in the same gene)....
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411689/ https://www.ncbi.nlm.nih.gov/pubmed/28487880 http://dx.doi.org/10.1101/mcs.a001099 |