Paper Info
Title
Functional annotation of genomic variants in studies of late-onset Alzheimer's disease.
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. Results: In this work, we outline an annotation process motivated by the Alzheimer's Disease Sequencing Project, illustrate the impact of including tissue-specific transcript sets and sources of gene regulatory information and assess the potential impact of changing genomic builds on the annotation process. While these factors only impact a small proportion of total variant annotations (similar to 5%), they influence the potential analysis of a large fraction of genes (similar to 25%). Availability and implementation: Individual variant annotations are available via the NIAGADS GenomicsDB, at https://www.niagads.org/genomics/tools-and-software/databases/genomics-database. Annotations are also available for bulk download at https://www.niagads.org/datasets.Annotation processing software is available at http://www.icompbio.net/resources/software-and-downloads/. Contact: wsb36@case.edu Supplementary information: Supplementary data are available at Bioinformatics online.
Year
DOI
Venue
2018
10.1093/bioinformatics/bty177
BIOINFORMATICS
Field
DocType
Volume
Disease,Annotation,Computer science,Bioinformatics,Computational biology
Journal
34
Issue
ISSN
Citations 
16
1367-4803
2
PageRank 
References 
Authors
0.51
5
11
Name
Order
Citations
PageRank
Mariusz Butkiewicz121.18
Elizabeth E. Blue220.51
Yuk Yee Leung392.70
Xueqiu Jian420.51
Edoardo Marcora520.51
Alan E. Renton620.51
Amanda Kuzma720.51
Li-San Wang8486.23
Daniel C. Koboldt912512.00
Jonathan L. Haines1020.84
William S. Bush1116118.45