Bioinformatics for personal genome interpretation

被引：56

作者：

Capriotti, Emidio ^{[1
,2
]}

Nehrt, Nathan L. ^{[3
]}

Kann, Maricel G. ^{[4
]}

Bromberg, Yana ^{[5
]}

机构：

[1] Univ Balearic Isl, Dept Math & Comp Sci, Palma De Mallorca 07122, Spain

[2] Stanford Univ, Dept Bioengn, Stanford, CA 94305 USA

[3] US FDA, Res Participat Program, Rockville, MD 20857 USA

[4] Univ Maryland Baltimore Cty, Dept Biol Sci, Baltimore, MD 21250 USA

[5] Rutgers State Univ, Dept Biochem & Microbiol, Sch Environm & Biol Sci, New Brunswick, NJ 08901 USA

来源：

BRIEFINGS IN BIOINFORMATICS | 2012年 / 13卷 / 04期

基金：

美国国家卫生研究院;

关键词：

genomic variation; genome interpretation; genomic variant databases; gene prioritization; deleterious variants; PROTEIN STABILITY CHANGES; NON-SYNONYMOUS SNPS; SINGLE NUCLEOTIDE POLYMORPHISMS; GENE PRIORITIZATION; SEMANTIC SIMILARITY; CANDIDATE GENES; WEB SERVER; IN-SILICO; NEIGHBORING GENES; SOMATIC MUTATIONS;

D O I：

10.1093/bib/bbr070

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

An international consortium released the first draft sequence of the human genome 10 years ago. Although the analysis of this data has suggested the genetic underpinnings of many diseases, we have not yet been able to fully quantify the relationship between genotype and phenotype. Thus, a major current effort of the scientific community focuses on evaluating individual predispositions to specific phenotypic traits given their genetic backgrounds. Many resources aim to identify and annotate the specific genes responsible for the observed phenotypes. Some of these use intra-species genetic variability as a means for better understanding this relationship. In addition, several online resources are now dedicated to collecting single nucleotide variants and other types of variants, and annotating their functional effects and associations with phenotypic traits. This information has enabled researchers to develop bioinformatics tools to analyze the rapidly increasing amount of newly extracted variation data and to predict the effect of uncharacterized variants. In this work, we review the most important developments in the field-the databases and bioinformatics tools that will be of utmost importance in our concerted effort to interpret the human variome.

引用

页码：495 / 512

页数：18

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