| Title | The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes. |
| Publication Type | Journal Article |
| Year of Publication | 2017 |
| Authors | Liu, X, Li, C, Boerwinkle, E |
| Journal | J Med Genet |
| Volume | 54 |
| Issue | 2 |
| Pagination | 134-144 |
| Date Published | 2017 Feb |
| ISSN | 1468-6244 |
| Keywords | Databases, Genetic, Genes, Genetic Predisposition to Disease, Genome, Human, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Reproducibility of Results, ROC Curve |
| DOI | 10.1136/jmedgenet-2016-104369 |
| Alternate Journal | J Med Genet |
| PubMed ID | 27999115 |
| PubMed Central ID | PMC5736365 |
| Grant List | RC2 HL102419 / HL / NHLBI NIH HHS / United States
U54 HG003273 / HG / NHGRI NIH HHS / United States |