Human genotype-phenotype databases: aims, challenges and opportunities

被引：80

作者：

Brookes, Anthony J. ^{[1
,2
]}

Robinson, Peter N. ^{[3
,4
,5
,6
]}

机构：

[1] Univ Leicester, Dept Genet, Leicester LE1 7RH, Leics, England

[2] Glenfield Hosp, Data Knowledge Practice Facil, Cardiovasc Res Ctr, Leicester LE1 9HN, Leics, England

[3] Charite, Inst Med Genet & Human Genet, D-13353 Berlin, Germany

[4] Charite, Berlin Brandenburg Ctr Regenerat Therapies, D-13353 Berlin, Germany

[5] Max Planck Inst Mol Genet, D-14195 Berlin, Germany

[6] Free Univ Berlin, Inst Bioinformat, Dept Math & Comp Sci, D-14195 Berlin, Germany

来源：

NATURE REVIEWS GENETICS | 2015年 / 16卷 / 12期

基金：

美国国家卫生研究院;

关键词：

GENOME-WIDE ASSOCIATION; MUTATION DATABASES; SEQUENCE VARIATION; DECIPHER DATABASE; DISEASE; GENE; VARIANTS; ONTOLOGY; CANCER; TOOL;

D O I：

10.1038/nrg3932

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Genotype-phenotype databases provide information about genetic variation, its consequences and its mechanisms of action for research and health care purposes. Existing databases vary greatly in type, areas of focus and modes of operation. Despite ever larger and more intricate datasets-made possible by advances in DNA sequencing, omics methods and phenotyping technologies-steady progress is being made towards integrating these databases rather than using them as separate entities. The consequential shift in focus from single-gene variants towards large gene panels, exomes, whole genomes and myriad observable characteristics creates new challenges and opportunities in database design, interpretation of variant pathogenicity and modes of data representation and use.

引用

页码：702 / 715

页数：14

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