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The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes.

TitleThe performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes.
Publication TypeJournal Article
Year of Publication2017
AuthorsLiu X, Li C
Secondary AuthorsBoerwinkle E
JournalJ Med Genet
Volume54
Issue2
Pagination134-144
Date Published2017 02
ISSN1468-6244
KeywordsDatabases, Genetic, Genes, Genetic Predisposition to Disease, Genome, Human, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Reproducibility of Results, ROC Curve
DOI10.1136/jmedgenet-2016-104369
Alternate JournalJ Med Genet
PubMed ID27999115
PubMed Central IDPMC5736365
Grant ListRC2 HL102419 / HL / NHLBI NIH HHS / United States
U54 HG003273 / HG / NHGRI NIH HHS / United States