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novoCaller: a Bayesian network approach for de novo variant calling from pedigree and population sequence data
MOTIVATION: De novo mutations (i.e. newly occurring mutations) are a pre-dominant cause of sporadic dominant monogenic diseases and play a significant role in the genetics of complex disorders. De novo mutation studies also inform population genetics models and shed light on the biology of DNA repli...
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| Pubblicato in: | Bioinformatics |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Oxford University Press
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6449753/ https://ncbi.nlm.nih.gov/pubmed/30169785 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/bty749 |
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