Title | Functional annotation of genomic variants in studies of late-onset Alzheimer's disease. |
Publication Type | Journal Article |
Year of Publication | 2018 |
Authors | Butkiewicz M, Blue EE, Leung YYee, Jian X, Marcora E, Renton AE, Kuzma A, San Wang L-, Koboldt DC, Haines JL, Bush WS |
Journal | Bioinformatics |
Volume | 34 |
Issue | 16 |
Pagination | 2724-2731 |
Date Published | 2018 Aug 15 |
ISSN | 1367-4811 |
Abstract | Motivation: Annotation of genomic variants is an increasingly important and complex part of the analysis of sequence-based genomic analyses. Computational predictions of variant function are routinely incorporated into gene-based analyses of rare-variants, though to date most studies use limited information for assessing variant function that is often agnostic of the disease being studied. |
DOI | 10.1093/bioinformatics/bty177 |
Pubmed Link | http://www.ncbi.nlm.nih.gov/pubmed/29590295?dopt=Abstract |
page_expo | Internal |
Alternate Journal | Bioinformatics |
PubMed ID | 29590295 |
PubMed Central ID | PMC6084586 |
Grant List | U01 AG032984 / AG / NIA NIH HHS / United States |
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