Abstract
We report -1/417.6 million genetic variants from whole-genome sequencing of 2,120 Sardinians; 22% are absent from previous sequencing-based compilations and are enriched for predicted functional consequences. Furthermore, -1/476,000 variants common in our sample (frequency >5%) are rare elsewhere (
Original language | English |
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Pages (from-to) | 1272-1281 |
Number of pages | 10 |
Journal | Nature Genetics |
Volume | 47 |
Issue number | 11 |
DOIs | |
Publication status | Published - Nov 1 2015 |
ASJC Scopus subject areas
- Genetics