DRAGON-Data: a platform and protocol for integrating genomic and phenotypic data across large psychiatric cohorts.
DRAGON-Data: a platform and protocol for integrating genomic and phenotypic data across large psychiatric cohorts.
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DOI：
10.1192/bjo.2022.636
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发表时间：
2023-02-08
期刊：
影响因子：
5.4
通讯作者：
Walters, James T. R.
中科院分区：
文献类型：
--
作者：
Lynham, Amy J.;Knott, Sarah;Underwood, Jack F. G.;Hubbard, Leon;Agha, Sharifah S.;Bisson, Jonathan I.;van den Bree, Marianne B. M.;Chawner, Samuel J. R. A.;Craddock, Nicholas;O'Donovan, Michael;Jones, Ian R.;Kirov, George;Langley, Kate;Martin, Joanna;Rice, Frances;Roberts, Neil P.;Thapar, Anita;Anney, Richard;Owen, Michael J.;Hall, Jeremy;Pardinas, Antonio F. F.;Walters, James T. R.
关键词：
目前的精神病学诊断，虽然是可遗传的，但还没有清楚地映射到不同的潜在致病过程。相同的症状经常出现在多种疾病中，相当大比例的遗传和环境风险因素在各种疾病中都是相同的。然而，共同的症状和共同的遗传责任之间的关系仍然知之甚少。研究这一问题需要特征良好的交叉无序样本，但目前几乎没有这样的样本。我们的目标是开发程序，有目的地精选和汇总精神病学研究中的基因和表型数据。作为加的夫MRC精神健康数据探路者计划的一部分，我们对来自15项研究的表型和遗传信息进行了整理和协调，以创建一个新的数据库-Dragon-Data。到目前为止，Dragon-Data包括超过45000人：患有神经发育或精神疾病诊断的成人和儿童，收集的家庭中受影响的先证者，以及携带已知的神经发育风险拷贝数变异的个人。我们处理了可用的表型信息，得出了可以跨组可靠分析的核心变量。此外，所有包含基因信息的数据集都经过了严格的质量控制、归类、拷贝数变异调用和多基因评分生成。Dragon-Data结合了遗传和非遗传信息，可作为跨传统精神病学诊断类别的研究资源。用于数据协调的算法和管道目前已向科学界公开提供，并将开发适当的数据共享协议，作为与英国卫生数据研究中心合作的正在进行的项目(DATAMIND)的一部分。
Current psychiatric diagnoses, although heritable, have not been clearly mapped onto distinct underlying pathogenic processes. The same symptoms often occur in multiple disorders, and a substantial proportion of both genetic and environmental risk factors are shared across disorders. However, the relationship between shared symptoms and shared genetic liability is still poorly understood. Well-characterised, cross-disorder samples are needed to investigate this matter, but few currently exist. Our aim is to develop procedures to purposely curate and aggregate genotypic and phenotypic data in psychiatric research. As part of the Cardiff MRC Mental Health Data Pathfinder initiative, we have curated and harmonised phenotypic and genetic information from 15 studies to create a new data repository, DRAGON-Data. To date, DRAGON-Data includes over 45 000 individuals: adults and children with neurodevelopmental or psychiatric diagnoses, affected probands within collected families and individuals who carry a known neurodevelopmental risk copy number variant. We have processed the available phenotype information to derive core variables that can be reliably analysed across groups. In addition, all data-sets with genotype information have undergone rigorous quality control, imputation, copy number variant calling and polygenic score generation. DRAGON-Data combines genetic and non-genetic information, and is available as a resource for research across traditional psychiatric diagnostic categories. Algorithms and pipelines used for data harmonisation are currently publicly available for the scientific community, and an appropriate data-sharing protocol will be developed as part of ongoing projects (DATAMIND) in partnership with Health Data Research UK.
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影响因子：
48
作者：
Huber W;Carey VJ;Gentleman R;Anders S;Carlson M;Carvalho BS;Bravo HC;Davis S;Gatto L;Girke T;Gottardo R;Hahne F;Hansen KD;Irizarry RA;Lawrence M;Love MI;MacDonald J;Obenchain V;Oleś AK;Pagès H;Reyes A;Shannon P;Smyth GK;Tenenbaum D;Waldron L;Morgan M
通讯作者：
Morgan M
DOI：
10.1016/s2215-0366(15)00358-2
发表时间：
2016-01
期刊：
The lancet. Psychiatry
影响因子：
--
作者：
Collishaw S;Hammerton G;Mahedy L;Sellers R;Owen MJ;Craddock N;Thapar AK;Harold GT;Rice F;Thapar A
通讯作者：
Thapar A
影响因子：
9.2
作者：
Chang CC;Chow CC;Tellier LC;Vattikuti S;Purcell SM;Lee JJ
通讯作者：
Lee JJ
影响因子：
6.6
作者：
Gordon-Smith, Katherine;Saunders, Kate;Jones, Lisa
通讯作者：
Jones, Lisa
影响因子：
11
作者：
Gur, R. E.;Bassett, A. S.;Morrow, B.
通讯作者：
Morrow, B.