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.
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2016-10-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/ncomms13293 |