Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies.
Annu Rev Genomics Hum Genet
; 18: 229-256, 2017 08 31.
Article
em En
| MEDLINE
| ID: mdl-28415856
ABSTRACT
Comprehensive annotations of genetic and noncoding regions and corresponding accurate variant classification for Mendelian diseases are the next big challenge in the new genomic era of personalized medicine. Progress in the development of faster and more accurate pipelines for genome annotation and variant classification will lead to the discovery of more novel disease associations and candidate therapeutic targets. This ultimately will facilitate better patient recruitment in clinical trials. In this review, we describe the trends in research at the intersection of basic and clinical genomics that aims to increase understanding of overall genomic complexity, complex inheritance patterns of disease, and patient-phenotype-specific genomic associations. We describe the emerging field of translational functional genomics, which integrates other functional "-omics" approaches that support next-generation sequencing genomic data in order to facilitate personalized diagnostics, disease management, biomarker discovery, and medicine. We also discuss the utility of this integrated approach for diagnostic clinics and medical databases and its role in the future of personalized medicine.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
/
Análise de Sequência de DNA
/
Predisposição Genética para Doença
/
Anotação de Sequência Molecular
/
Doenças Genéticas Inatas
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Annu Rev Genomics Hum Genet
Assunto da revista:
GENETICA
/
GENETICA MEDICA
Ano de publicação:
2017
Tipo de documento:
Article