Functional annotation of genomic variants in studies of late-onset Alzheimer's disease.
Bioinformatics
; 34(16): 2724-2731, 2018 08 15.
Article
em En
| MEDLINE
| ID: mdl-29590295
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 (â¼5%), they influence the potential analysis of a large fraction of genes (â¼25%). 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/. Supplementary information Supplementary data are available at Bioinformatics online.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Software
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Análise de Sequência de DNA
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Predisposição Genética para Doença
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Polimorfismo de Nucleotídeo Único
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Anotação de Sequência Molecular
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Doença de Alzheimer
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article