The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.
The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.
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DOI：
10.1093/nar/gkac972
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发表时间：
2023-01-06
影响因子：
14.9
通讯作者：
Parkinson, Helen
中科院分区：
文献类型：
--
作者：
Groza, Tudor;Gomez, Federico Lopez;Mashhadi, Hamed Haseli;Munoz-Fuentes, Violeta;Gunes, Osman;Wilson, Robert;Cacheiro, Pilar;Frost, Anthony;Keskivali-Bond, Piia;Vardal, Bora;McCoy, Aaron;Cheng, Tsz Kwan;Santos, Luis;Wells, Sara;Smedley, Damian;Mallon, Ann-Marie;Parkinson, Helen
国际小鼠表型鉴定联盟（IMPC; https：//www.mousephenotype.org/）门户网站提供了由IMPC项目产生的策划、整合和分析的敲除小鼠表型数据，该数据由85 M个数据点和超过95，000个映射到人类疾病的统计学显著表型命中组成。IMPC门户网站提供了大量的参考数据集，支持丰富各种特定领域的项目和数据库，以及更广泛的研究和临床社区，其中IMPC基因型-表型知识有助于罕见疾病患者的分子诊断。来自9，000个小鼠品系和750，000张图像的数据提供了重要的资源，使我们能够解释基因组，并推进我们对哺乳动物基因功能和与人类疾病相关的表型机制的认识。该资源被广泛整合，这些行已在4，600多种出版物中使用，表明了数据和材料的价值。
The International Mouse Phenotyping Consortium (IMPC; https://www.mousephenotype.org/) web portal makes available curated, integrated and analysed knockout mouse phenotyping data generated by the IMPC project consisting of 85M data points and over 95,000 statistically significant phenotype hits mapped to human diseases. The IMPC portal delivers a substantial reference dataset that supports the enrichment of various domain-specific projects and databases, as well as the wider research and clinical community, where the IMPC genotype–phenotype knowledge contributes to the molecular diagnosis of patients affected by rare disorders. Data from 9,000 mouse lines and 750 000 images provides vital resources enabling the interpretation of the ignorome, and advancing our knowledge on mammalian gene function and the mechanisms underlying phenotypes associated with human diseases. The resource is widely integrated and the lines have been used in over 4,600 publications indicating the value of the data and the materials.
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通过高通量小鼠表型来鉴定代谢中的遗传因素。
影响因子：
16.6
作者：
Rozman J;Rathkolb B;Oestereicher MA;Schütt C;Ravindranath AC;Leuchtenberger S;Sharma S;Kistler M;Willershäuser M;Brommage R;Meehan TF;Mason J;Haselimashhadi H;IMPC Consortium;Hough T;Mallon AM;Wells S;Santos L;Lelliott CJ;White JK;Sorg T;Champy MF;Bower LR;Reynolds CL;Flenniken AM;Murray SA;Nutter LMJ;Svenson KL;West D;Tocchini-Valentini GP;Beaudet AL;Bosch F;Braun RB;Dobbie MS;Gao X;Herault Y;Moshiri A;Moore BA;Kent Lloyd KC;McKerlie C;Masuya H;Tanaka N;Flicek P;Parkinson HE;Sedlacek R;Seong JK;Wang CL;Moore M;Brown SD;Tschöp MH;Wurst W;Klingenspor M;Wolf E;Beckers J;Machicao F;Peter A;Staiger H;Häring HU;Grallert H;Campillos M;Maier H;Fuchs H;Gailus-Durner V;Werner T;Hrabe de Angelis M
通讯作者：
Hrabe de Angelis M
影响因子：
16.6
作者：
Bowl MR;Simon MM;Ingham NJ;Greenaway S;Santos L;Cater H;Taylor S;Mason J;Kurbatova N;Pearson S;Bower LR;Clary DA;Meziane H;Reilly P;Minowa O;Kelsey L;International Mouse Phenotyping Consortium;Tocchini-Valentini GP;Gao X;Bradley A;Skarnes WC;Moore M;Beaudet AL;Justice MJ;Seavitt J;Dickinson ME;Wurst W;de Angelis MH;Herault Y;Wakana S;Nutter LMJ;Flenniken AM;McKerlie C;Murray SA;Svenson KL;Braun RE;West DB;Lloyd KCK;Adams DJ;White J;Karp N;Flicek P;Smedley D;Meehan TF;Parkinson HE;Teboul LM;Wells S;Steel KP;Mallon AM;Brown SDM
通讯作者：
Brown SDM
影响因子：
12.7
作者：
Brommage, Robert;Liu, Jeff;Hansen, Gwenn M.;Kirkpatrick, Laura L.;Potter, David G.;Sands, Arthur T.;Zambrowicz, Brian;Powell, David R.;Vogel, Peter
通讯作者：
Vogel, Peter
影响因子：
5.9
作者：
Moore, Bret A.;Leonard, Brian C.;Tocchini-Valentini, Giuseppe D.
通讯作者：
Tocchini-Valentini, Giuseppe D.
影响因子：
64.8
作者：
Dickinson ME;Flenniken AM;Ji X;Teboul L;Wong MD;White JK;Meehan TF;Weninger WJ;Westerberg H;Adissu H;Baker CN;Bower L;Brown JM;Caddle LB;Chiani F;Clary D;Cleak J;Daly MJ;Denegre JM;Doe B;Dolan ME;Edie SM;Fuchs H;Gailus-Durner V;Galli A;Gambadoro A;Gallegos J;Guo S;Horner NR;Hsu CW;Johnson SJ;Kalaga S;Keith LC;Lanoue L;Lawson TN;Lek M;Mark M;Marschall S;Mason J;McElwee ML;Newbigging S;Nutter LM;Peterson KA;Ramirez-Solis R;Rowland DJ;Ryder E;Samocha KE;Seavitt JR;Selloum M;Szoke-Kovacs Z;Tamura M;Trainor AG;Tudose I;Wakana S;Warren J;Wendling O;West DB;Wong L;Yoshiki A;International Mouse Phenotyping Consortium;Jackson Laboratory;Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS);Charles River Laboratories;MRC Harwell;Toronto Centre for Phenogenomics;Wellcome Trust Sanger Institute;RIKEN BioResource Center;MacArthur DG;Tocchini-Valentini GP;Gao X;Flicek P;Bradley A;Skarnes WC;Justice MJ;Parkinson HE;Moore M;Wells S;Braun RE;Svenson KL;de Angelis MH;Herault Y;Mohun T;Mallon AM;Henkelman RM;Brown SD;Adams DJ;Lloyd KC;McKerlie C;Beaudet AL;Bućan M;Murray SA
通讯作者：
Murray SA