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A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome
De novo mutations (DNMs) are increasingly recognized as rare disease causal factors. Identifying DNM carriers will allow researchers to study the likely distinct molecular mechanisms of DNMs. We developed Famdenovo to predict DNM status (DNM or familial mutation [FM]) of deleterious autosomal domina...
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| Published in: | Genome Res |
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| Main Authors: | , , , , , , , , , , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
Cold Spring Harbor Laboratory Press
2020
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7462073/ https://ncbi.nlm.nih.gov/pubmed/32817165 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.249599.119 |
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