The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
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DOI：
10.1002/humu.24353
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发表时间：
2022-06
期刊：
影响因子：
3.9
通讯作者：
Beltran, Sergi
中科院分区：
文献类型：
--
作者：
Laurie, Steven;Piscia, Davide;Matalonga, Leslie;Corvo, Alberto;Fernandez-Callejo, Marcos;Garcia-Linares, Carles;Hernandez-Ferrer, Carles;Luengo, Cristina;Martinez, Ines;Papakonstantinou, Anastasios;Pico-Amador, Daniel;Protasio, Joan;Thompson, Rachel;Tonda, Raul;Bayes, Monica;Bullich, Gemma;Camps-Puchadas, Jordi;Paramonov, Ida;Trotta, Jean-Remi;Alonso, Angel;Attimonelli, Marcella;Beroud, Christophe;Bros-Facer, Virginie;Buske, Orion J.;Canada-Pallares, Andres;Fernandez, Jose M.;Hansson, Mats G.;Horvath, Rita;Jacobsen, Julius O. B.;Kaliyaperumal, Rajaram;Lair-Preterre, Severine;Licata, Luana;Lopes, Pedro;Lopez-Martin, Estrella;Mascalzoni, Deborah;Monaco, Lucia;Perez-Jurado, Luis A.;Posada de la Paz, Manuel;Rambla, Jordi;Rath, Ana;Riess, Olaf;Robinson, Peter N.;Salgado, David;Smedley, Damian;Spalding, Dylan;'t Hoen, Peter A. C.;Topf, Ana;Zaharieva, Irina;Graessner, Holm;Gut, Ivo G.;Lochmuller, Hanns;Beltran, Sergi
由于下一代测序的广泛采用，罕见疾病患者现在更有可能接受快速分子诊断。然而，许多病例即使在外显子组或基因组分析后仍无法诊断，因为所使用的方法错过了已知基因中的分子原因，或者无法识别和/或确认新的致病基因。为了应对这些挑战，RD‐Connect基因组表型分析平台（GPAP）在协作环境中促进了标准化基因组表型数据的整理、发现、共享和分析。授权的临床医生和研究人员提交使用人类表型本体编码的假名化表型谱，以及通过标准化管道处理的原始基因组数据。在可选的禁运期之后，数据与其他平台用户共享，目的是系统中的类似病例和同行的查询可能有助于诊断病例。此外，该平台还可以从Matchmaker Exchange网络的其他数据库中双向发现类似案例。为了便于临床研究人员进行基因组表型组分析和解释，RD‐Connect GPAP提供了强大的用户友好界面，并利用了数十个信息源。因此，该资源已经帮助诊断了数百名罕见疾病患者，并发现了新的致病基因。RD‐Connect Genome‐Phenome Analysis Platform（GPAP）是一个可扩展和可互操作的在线系统，有助于整合基因组表型数据集的整理、分析、解释和共享，特别关注RD病例诊断和新基因发现。它可供罕见疾病研究社区的所有非商业成员免费使用。
Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next‐generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because the methods used missed the molecular cause in a known gene, or a novel causative gene could not be identified and/or confirmed. To address these challenges, the RD‐Connect Genome‐Phenome Analysis Platform (GPAP) facilitates the collation, discovery, sharing, and analysis of standardized genome‐phenome data within a collaborative environment. Authorized clinicians and researchers submit pseudonymised phenotypic profiles encoded using the Human Phenotype Ontology, and raw genomic data which is processed through a standardized pipeline. After an optional embargo period, the data are shared with other platform users, with the objective that similar cases in the system and queries from peers may help diagnose the case. Additionally, the platform enables bidirectional discovery of similar cases in other databases from the Matchmaker Exchange network. To facilitate genome‐phenome analysis and interpretation by clinical researchers, the RD‐Connect GPAP provides a powerful user‐friendly interface and leverages tens of information sources. As a result, the resource has already helped diagnose hundreds of rare disease patients and discover new disease causing genes. The RD‐Connect Genome‐Phenome Analysis Platform (GPAP) is a scalable and interoperable online system which facilitates the collation, analysis, interpretation and sharing of integrated genome‐phenome datasets, with a particular focus on RD case diagnosis and novel gene discovery. It is free to use for all noncommercial members of the rare disease research community.
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影响因子：
14.9
作者：
Howe KL;Achuthan P;Allen J;Allen J;Alvarez-Jarreta J;Amode MR;Armean IM;Azov AG;Bennett R;Bhai J;Billis K;Boddu S;Charkhchi M;Cummins C;Da Rin Fioretto L;Davidson C;Dodiya K;El Houdaigui B;Fatima R;Gall A;Garcia Giron C;Grego T;Guijarro-Clarke C;Haggerty L;Hemrom A;Hourlier T;Izuogu OG;Juettemann T;Kaikala V;Kay M;Lavidas I;Le T;Lemos D;Gonzalez Martinez J;Marugán JC;Maurel T;McMahon AC;Mohanan S;Moore B;Muffato M;Oheh DN;Paraschas D;Parker A;Parton A;Prosovetskaia I;Sakthivel MP;Salam AIA;Schmitt BM;Schuilenburg H;Sheppard D;Steed E;Szpak M;Szuba M;Taylor K;Thormann A;Threadgold G;Walts B;Winterbottom A;Chakiachvili M;Chaubal A;De Silva N;Flint B;Frankish A;Hunt SE;IIsley GR;Langridge N;Loveland JE;Martin FJ;Mudge JM;Morales J;Perry E;Ruffier M;Tate J;Thybert D;Trevanion SJ;Cunningham F;Yates AD;Zerbino DR;Flicek P
通讯作者：
Flicek P
影响因子：
7
作者：
Eberle, Michael A.;Fritzilas, Epameinondas;Bentley, David R.
通讯作者：
Bentley, David R.
影响因子：
30.8
作者：
Kircher, Martin;Witten, Daniela M.;Jain, Preti;O'Roak, Brian J.;Cooper, Gregory M.;Shendure, Jay
通讯作者：
Shendure, Jay
影响因子：
64.8
作者：
Karczewski, Konrad J;Francioli, Laurent C;MacArthur, Daniel G
通讯作者：
MacArthur, Daniel G
DOI：
10.1038/s41431-021-00900-2
发表时间：
2021-09
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
de Boer E;Ockeloen CW;Matalonga L;Horvath R;Solve-RD SNV-indel working group;Rodenburg RJ;Coenen MJH;Janssen M;Henssen D;Gilissen C;Steyaert W;Paramonov I;Solve-RD-DITF-ITHACA;Trimouille A;Kleefstra T;Verloes A;Vissers LELM
通讯作者：
Vissers LELM