Realizing the significance of noncoding functionality in clinical genomics

被引：63

作者：

Gloss, Brian S. ^{[1
,2
]}

Dinger, Marcel E. ^{[1
,2
,3
]}

机构：

[1] Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia

[2] UNSW Sydney, St Vincents Clin Sch, Sydney, NSW, Australia

[3] Genome One, Sydney, NSW, Australia

来源：

EXPERIMENTAL AND MOLECULAR MEDICINE | 2018年 / 50卷

关键词：

SEQUENCE VARIANTS; GENETIC-VARIATION; MISSING HERITABILITY; WIDE ASSOCIATION; DNA; TRANSCRIPTION; ANNOTATION; MUTATIONS; IDENTIFICATION; GUIDELINES;

D O I：

10.1038/s12276-018-0087-0

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Clinical genomics promises unprecedented precision in understanding the genetic basis of disease. Understanding the impact of variation across the genome is required to realize this potential. Currently, clinical genomics analyses focus on protein-coding genes. However, the noncoding genome is substantially larger than the protein-coding counterpart, and contains structural, regulatory, and transcribed information that needs to be incorporated into genome annotations if the full extent of the opportunity to use genomic information in healthcare is to be realized. This article reviews the challenges and opportunities in unlocking the clinical significance of coding and noncoding genomic information and translating its utility in practice.

引用

页码：1 / 8

页数：8

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