Annotating non-coding regions of the genome

被引：390

作者：

Alexander, Roger P. ^{[1
,2
]}

Fang, Gang ^{[1
,2
]}

Rozowsky, Joel ^{[2
]}

Snyder, Michael ^{[3
]}

Gerstein, Mark B. ^{[1
,2
,4
]}

机构：

[1] Yale Univ, Program Computat Biol & Bioinformat, New Haven, CT 06520 USA

[2] Yale Univ, Dept Mol Biophys & Biochem, New Haven, CT 06520 USA

[3] Stanford Univ, Dept Genet, Stanford, CA 94305 USA

[4] Yale Univ, Dept Comp Sci, New Haven, CT 06520 USA

来源：

NATURE REVIEWS GENETICS | 2010年 / 11卷 / 08期

关键词：

COPY NUMBER VARIANTS; GENE-EXPRESSION; CHROMATIN IMMUNOPRECIPITATION; TRANSCRIPTIONAL ACTIVITY; ULTRACONSERVED ELEMENTS; SEGMENTAL DUPLICATIONS; STRUCTURAL VARIATION; REGULATORY ELEMENTS; RESOLUTION ANALYSIS; ENCODE REGIONS;

D O I：

10.1038/nrg2814

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Most of the human genome consists of non-protein-coding DNA. Recently, progress has been made in annotating these non-coding regions through the interpretation of functional genomics experiments and comparative sequence analysis. One can conceptualize functional genomics analysis as involving a sequence of steps: turning the output of an experiment into a 'signal' at each base pair of the genome; smoothing this signal and segmenting it into small blocks of initial annotation; and then clustering these small blocks into larger derived annotations and networks. Finally, one can relate functional genomics annotations to conserved units and measures of conservation derived from comparative sequence analysis.

引用

收藏

页码：559 / 571

页数：13

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