rSNPBase: a database for curated regulatory SNPs.
rSNPBase: a database for curated regulatory SNPs.
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rSNPBase：精选监管 SNP 的数据库。
DOI：
10.1093/nar/gkt1167
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发表时间：
2014-01
影响因子：
14.9
通讯作者：
Wang J
中科院分区：
文献类型：
--
作者：
Guo L;Du Y;Chang S;Zhang K;Wang J
近年来，人类调控单核苷酸多态性（rSNPs）得到了广泛研究。在此，我们推出rSNPBase数据库（可通过http://rsnp.psych.ac.cn/免费访问），该数据库提供经过整理的rSNPs，参照实验验证的调控元件，对人类基因组中所有单核苷酸多态性的调控特征进行分析。与以往的单核苷酸多态性功能注释数据库相比，rSNPBase具有几个独特之处。（i）为提高可靠性，rSNPBase中的所有单核苷酸多态性均参照实验验证的调控元件进行注释。（ii）rSNPBase聚焦于涉及多种调控类型的rSNPs，包括近端和远端转录调控以及转录后调控，并确定其潜在调控的基因。（iii）分析了单核苷酸多态性之间的连锁不平衡（LD）相关性，以便将调控特征注释到单核苷酸多态性集合而非单个单核苷酸多态性上。（iv）rSNPBase为单核苷酸多态性提供时空标签和实验性表达数量性状位点（eQTL）标签。总之，rSNPBase为rSNPs提供了更可靠、全面且用户友好的调控注释，将有助于研究人员选择候选单核苷酸多态性以开展进一步的遗传学研究，并探索复杂表型深入分子机制中的因果单核苷酸多态性。
In recent years, human regulatory SNPs (rSNPs) have been widely studied. Here, we present database rSNPBase, freely available at http://rsnp.psych.ac.cn/, to provide curated rSNPs that analyses the regulatory features of all SNPs in the human genome with reference to experimentally supported regulatory elements. In contrast with previous SNP functional annotation databases, rSNPBase is characterized by several unique features. (i) To improve reliability, all SNPs in rSNPBase are annotated with reference to experimentally supported regulatory elements. (ii) rSNPBase focuses on rSNPs involved in a wide range of regulation types, including proximal and distal transcriptional regulation and post-transcriptional regulation, and identifies their potentially regulated genes. (iii) Linkage disequilibrium (LD) correlations between SNPs were analysed so that the regulatory feature is annotated to SNP-set rather than a single SNP. (iv) rSNPBase provides the spatio-temporal labels and experimental eQTL labels for SNPs. In summary, rSNPBase provides more reliable, comprehensive and user-friendly regulatory annotations on rSNPs and will assist researchers in selecting candidate SNPs for further genetic studies and in exploring causal SNPs for in-depth molecular mechanisms of complex phenotypes.
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影响因子：
14.9
作者：
Kozomara A;Griffiths-Jones S
通讯作者：
Griffiths-Jones S
影响因子：
14.9
作者：
Lee, Phil Hyoun;Shatkay, Hagit
通讯作者：
Shatkay, Hagit
影响因子：
7
作者：
Boyle AP;Hong EL;Hariharan M;Cheng Y;Schaub MA;Kasowski M;Karczewski KJ;Park J;Hitz BC;Weng S;Cherry JM;Snyder M
通讯作者：
Snyder M
影响因子：
5.8
作者：
Macintyre, Geoff;Bailey, James;Kowalczyk, Adam
通讯作者：
Kowalczyk, Adam
影响因子：
14.9
作者：
Flicek P;Ahmed I;Amode MR;Barrell D;Beal K;Brent S;Carvalho-Silva D;Clapham P;Coates G;Fairley S;Fitzgerald S;Gil L;García-Girón C;Gordon L;Hourlier T;Hunt S;Juettemann T;Kähäri AK;Keenan S;Komorowska M;Kulesha E;Longden I;Maurel T;McLaren WM;Muffato M;Nag R;Overduin B;Pignatelli M;Pritchard B;Pritchard E;Riat HS;Ritchie GR;Ruffier M;Schuster M;Sheppard D;Sobral D;Taylor K;Thormann A;Trevanion S;White S;Wilder SP;Aken BL;Birney E;Cunningham F;Dunham I;Harrow J;Herrero J;Hubbard TJ;Johnson N;Kinsella R;Parker A;Spudich G;Yates A;Zadissa A;Searle SM
通讯作者：
Searle SM