Gene4HL: An Integrated Genetic Database for Hearing Loss.
Gene4HL: An Integrated Genetic Database for Hearing Loss.
复制标题
Gene4HL：听力损失综合遗传数据库
DOI：
10.3389/fgene.2021.773009
复制
发表时间：
2021
影响因子：
3.7
通讯作者：
Yuan Y
中科院分区：
文献类型：
--
作者：
Huang S;Zhao G;Wu J;Li K;Wang Q;Fu Y;Zhang H;Bi Q;Li X;Wang W;Guo C;Zhang D;Wu L;Li X;Xu H;Han M;Wang X;Lei C;Qiu X;Li Y;Li J;Dai P;Yuan Y
听力损失（HL）是世界上最常见的残疾之一。在工业化国家，HL 发生在 1-2/1,000 名新生儿中，大约 60% 的 HL 是由遗传因素引起的。下一代测序 (NGS) 已广泛用于识别 HL 患者的许多候选基因和变异，但数据分散在众多研究中。对于科学家、临床医生和生物学家来说，轻松获取和分析这些研究中的 HL 基因和变异数据是一个挑战。因此，我们开发了HL相关基因和变异的一站式数据库Gene4HL（http://www.genemed.tech/gene4hl/），方便对遗传数据进行编目、搜索、浏览和分析。 Gene4HL 整合了来自 1,608 项已发表研究的 326 个 HL 相关基因的详细遗传和临床数据，以及 62 个流行的遗传数据源，以提供与 HL 相关的候选基因和变异的全面知识。此外，Gene4HL还支持用户分析自己的基因工程网络数据，执行全面注释，并使用自定义参数对候选基因和变异进行优先级排序。因此，Gene4HL 可以通过关联人类基因型和表型来帮助用户解释 HL 基因的功能以及变异的临床意义。
Hearing loss (HL) is one of the most common disabilities in the world. In industrialized countries, HL occurs in 1–2/1,000 newborns, and approximately 60% of HL is caused by genetic factors. Next generation sequencing (NGS) has been widely used to identify many candidate genes and variants in patients with HL, but the data are scattered in multitudinous studies. It is a challenge for scientists, clinicians, and biologists to easily obtain and analyze HL genes and variant data from these studies. Thus, we developed a one-stop database of HL-related genes and variants, Gene4HL (http://www.genemed.tech/gene4hl/), making it easy to catalog, search, browse and analyze the genetic data. Gene4HL integrates the detailed genetic and clinical data of 326 HL-related genes from 1,608 published studies, along with 62 popular genetic data sources to provide comprehensive knowledge of candidate genes and variants associated with HL. Additionally, Gene4HL supports the users to analyze their own genetic engineering network data, performs comprehensive annotation, and prioritizes candidate genes and variations using custom parameters. Thus, Gene4HL can help users explain the function of HL genes and the clinical significance of variants by correlating the genotypes and phenotypes in humans.
登录
查看更多内容
遗传对人体组织基因表达的影响。
影响因子：
64.8
作者：
GTEx Consortium;Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group;Statistical Methods groups—Analysis Working Group;Enhancing GTEx (eGTEx) groups;NIH Common Fund;NIH/NCI;NIH/NHGRI;NIH/NIMH;NIH/NIDA;Biospecimen Collection Source Site—NDRI;Biospecimen Collection Source Site—RPCI;Biospecimen Core Resource—VARI;Brain Bank Repository—University of Miami Brain Endowment Bank;Leidos Biomedical—Project Management;ELSI Study;Genome Browser Data Integration &Visualization—EBI;Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz;Lead analysts:;Laboratory, Data Analysis &Coordinating Center (LDACC):;NIH program management:;Biospecimen collection:;Pathology:;eQTL manuscript working group:;Battle A;Brown CD;Engelhardt BE;Montgomery SB
通讯作者：
Montgomery SB
DOI：
10.1016/s0140-6736(21)00516-x
发表时间：
2021-03-13
期刊：
Lancet (London, England)
影响因子：
--
作者：
GBD 2019 Hearing Loss Collaborators
通讯作者：
GBD 2019 Hearing Loss Collaborators
影响因子：
14.9
作者：
Köhler S;Vasilevsky NA;Engelstad M;Foster E;McMurry J;Aymé S;Baynam G;Bello SM;Boerkoel CF;Boycott KM;Brudno M;Buske OJ;Chinnery PF;Cipriani V;Connell LE;Dawkins HJ;DeMare LE;Devereau AD;de Vries BB;Firth HV;Freson K;Greene D;Hamosh A;Helbig I;Hum C;Jähn JA;James R;Krause R;F Laulederkind SJ;Lochmüller H;Lyon GJ;Ogishima S;Olry A;Ouwehand WH;Pontikos N;Rath A;Schaefer F;Scott RH;Segal M;Sergouniotis PI;Sever R;Smith CL;Straub V;Thompson R;Turner C;Turro E;Veltman MW;Vulliamy T;Yu J;von Ziegenweidt J;Zankl A;Züchner S;Zemojtel T;Jacobsen JO;Groza T;Smedley D;Mungall CJ;Haendel M;Robinson PN
通讯作者：
Robinson PN
影响因子：
14.9
作者：
Geer LY;Marchler-Bauer A;Geer RC;Han L;He J;He S;Liu C;Shi W;Bryant SH
通讯作者：
Bryant SH
影响因子：
9.8
作者：
Azaiez H;Booth KT;Ephraim SS;Crone B;Black-Ziegelbein EA;Marini RJ;Shearer AE;Sloan-Heggen CM;Kolbe D;Casavant T;Schnieders MJ;Nishimura C;Braun T;Smith RJH
通讯作者：
Smith RJH