Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects
Accurate estimations of the frequency distribution of rare variants are needed to quantify the discovery power and guide large-scale human sequencing projects. This study describes an algorithm called UnseenEst to estimate the distribution of genetic variations using tens of thousands of exomes.
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| Auteurs principaux: | , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Nature Portfolio
2016
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/030ddc69bcf0485d89f5ce1d1a30988b |
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