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.
Highlights
The last decade has brought unprecedented technological advances in all areas of genomics
The specific areas discussed in this review are the assembly of human reference genome sequences, the impacts of research on gene structure and function since the completion of the human genome sequence, next-generation sequencing (NGS), DNA sequence variation and annotation, Mendelian and complex diseases, the expansion of knowledge of the phenotypic spectrum of diseases caused by individual genes, the discovery of new disease genes, gene-gene global networks, and the emerging area of integrated functional genomics for diagnostics, biomarkers, and clinical trials
The genomics era is moving toward an understanding of the functionality of genomic complexities by using an integrated -omics approach that is blurring the distinctions between basic and clinical genomics, albeit with cautionary recommendations and guidelines
Summary
The last decade has brought unprecedented technological advances in all areas of genomics. The specific areas discussed in this review are the assembly of human reference genome sequences, the impacts of research on gene structure and function since the completion of the human genome sequence, next-generation sequencing (NGS), DNA sequence variation and annotation, Mendelian and complex diseases (and those that fall between these categories), the expansion of knowledge of the phenotypic spectrum of diseases caused by individual genes, the discovery of new disease genes, gene-gene global networks, and the emerging area of integrated functional genomics for diagnostics, biomarkers, and clinical trials.
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