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Precise detection of de novo single nucleotide variants in human genomes
The precise determination of de novo genetic variants has enormous implications across different fields of biology and medicine, particularly personalized medicine. Currently, de novo variations are identified by mapping sample reads from a parent–offspring trio to a reference genome, allowing for a...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
National Academy of Sciences
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003530/ https://www.ncbi.nlm.nih.gov/pubmed/29735690 http://dx.doi.org/10.1073/pnas.1802244115 |