Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports.
Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports.
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DOI：
10.1002/ajmg.b.32579
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发表时间：
2018-10
期刊：
影响因子：
--
通讯作者：
Avillach P
中科院分区：
文献类型：
--
作者：
Kothari C;Wack M;Hassen-Khodja C;Finan S;Savova G;O'Boyle M;Bliss G;Cornell A;Horn EJ;Davis R;Jacobs J;Kohane I;Avillach P
患者表型数据的异质性是研究神经精神疾病起源和进展的障碍。由于缺乏患者临床数据，这一困难在罕见疾病如费伦-麦克德米德综合征（PMS）的情况下更加复杂。经前症候群是一种罕见的自闭症和智力缺陷的综合征遗传原因。在本文中，我们描述了Phelan - McDermid综合征数据网络（PMS_DN），这是一个促进PMS表型-基因型相关性和进展研究的平台：a)整合从患者报告结果（PRO）数据和临床记录中提取的患者表型知识-两种不同的，未充分利用的患者表型知识来源-与来自同一患者队列的精心设计的遗传信息；b)将这些整合的知识与一套统计工具一起，在门户网站https://pmsdn.hms.harvard.edu上免费提供给授权的研究人员。PMS_DN是一项以患者为中心的结果研究计划（PCORI），在该计划中，患者及其家属参与了患者数据管理的各个方面，以推动PMS研究。为了促进合作研究，PMS_DN还通过分布式研究网络（如PCORnet PopMedNet）向授权的研究人员提供来自这些知识的患者汇总。PMS_DN托管在可扩展的基于云的环境中，并符合所有患者数据隐私法规。截至2016年10月31日，PMS_DN整合了从112名患者的临床记录中提取的高质量知识，以及来自415名患者的预处理PRO数据的176名患者的精选遗传报告。
The heterogeneity of patient phenotype data are an impediment to the research into the origins and progression of neuropsychiatric disorders. This difficulty is compounded in the case of rare disorders such as Phelan‐McDermid Syndrome (PMS) by the paucity of patient clinical data. PMS is a rare syndromic genetic cause of autism and intellectual deficiency. In this paper, we describe the Phelan‐McDermid Syndrome Data Network (PMS_DN), a platform that facilitates research into phenotype–genotype correlation and progression of PMS by: a) integrating knowledge of patient phenotypes extracted from Patient Reported Outcomes (PRO) data and clinical notes—two heterogeneous, underutilized sources of knowledge about patient phenotypes—with curated genetic information from the same patient cohort and b) making this integrated knowledge, along with a suite of statistical tools, available free of charge to authorized investigators on a Web portal https://pmsdn.hms.harvard.edu. PMS_DN is a Patient Centric Outcomes Research Initiative (PCORI) where patients and their families are involved in all aspects of the management of patient data in driving research into PMS. To foster collaborative research, PMS_DN also makes patient aggregates from this knowledge available to authorized investigators using distributed research networks such as the PCORnet PopMedNet. PMS_DN is hosted on a scalable cloud based environment and complies with all patient data privacy regulations. As of October 31, 2016, PMS_DN integrates high‐quality knowledge extracted from the clinical notes of 112 patients and curated genetic reports of 176 patients with preprocessed PRO data from 415 patients.
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影响因子：
16.2
作者：
Iossifov I;Ronemus M;Levy D;Wang Z;Hakker I;Rosenbaum J;Yamrom B;Lee YH;Narzisi G;Leotta A;Kendall J;Grabowska E;Ma B;Marks S;Rodgers L;Stepansky A;Troge J;Andrews P;Bekritsky M;Pradhan K;Ghiban E;Kramer M;Parla J;Demeter R;Fulton LL;Fulton RS;Magrini VJ;Ye K;Darnell JC;Darnell RB;Mardis ER;Wilson RK;Schatz MC;McCombie WR;Wigler M
通讯作者：
Wigler M
影响因子：
64.8
作者：
Kong A;Frigge ML;Masson G;Besenbacher S;Sulem P;Magnusson G;Gudjonsson SA;Sigurdsson A;Jonasdottir A;Jonasdottir A;Wong WS;Sigurdsson G;Walters GB;Steinberg S;Helgason H;Thorleifsson G;Gudbjartsson DF;Helgason A;Magnusson OT;Thorsteinsdottir U;Stefansson K
通讯作者：
Stefansson K
影响因子：
7
作者：
Miga KH;Newton Y;Jain M;Altemose N;Willard HF;Kent WJ
通讯作者：
Kent WJ
影响因子：
3.5
作者：
Frank, Lori;Forsythe, Laura;Daugherty, Sarah
通讯作者：
Daugherty, Sarah
DOI：
10.1002/ajmg.c.30155
发表时间：
2007-11-15
影响因子：
3.1
作者：
Cusmano-Ozog, Kristina;Manning, Melanie A.;Hoyme, H. Eugene
通讯作者：
Hoyme, H. Eugene