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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...
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| Pubblicato in: | Proc Natl Acad Sci U S A |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
National Academy of Sciences
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6003530/ https://ncbi.nlm.nih.gov/pubmed/29735690 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1802244115 |
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