Interpretation of psychiatric genome-wide association studies with multispecies heterogeneous functional genomic data integration.
Interpretation of psychiatric genome-wide association studies with multispecies heterogeneous functional genomic data integration.
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DOI：
10.1038/s41386-020-00795-5
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发表时间：
2021-01
期刊：
影响因子：
--
通讯作者：
Chesler EJ
中科院分区：
文献类型：
--
作者：
Reynolds T;Johnson EC;Huggett SB;Bubier JA;Palmer RHC;Agrawal A;Baker EJ;Chesler EJ
全基因组关联研究和其他发现遗传学方法提供了一种手段，以确定以前未知的生物学机制的行为障碍，可能指向新的治疗途径，增强诊断工具，并产生更深入的了解生物学的精神疾病。精神病遗传学的最新进展是通过大规模的合作努力取得的。这些研究已经开始发掘许多与人类群体中的精神疾病和行为特征相关的新的遗传变异。在表征所产生的疾病相关遗传变异和优先功能随访方面仍然存在重大挑战，以使其有助于对治疗方法的机制理解和开发。模式生物的研究已经产生了广泛的基因组数据，可以提供深入了解变异作用的神经生物学机制，但必须作出一致的努力，以确定哪些方面的行为特征的生物调制是进化上保守的物种。可扩展的计算，新的数据集成策略和先进的分析方法在这篇评论中概述了提供了一个框架，有效地利用模式生物数据，支持临床相关的精神病表型。
Genome-wide association studies and other discovery genetics methods provide a means to identify previously unknown biological mechanisms underlying behavioral disorders that may point to new therapeutic avenues, augment diagnostic tools, and yield a deeper understanding of the biology of psychiatric conditions. Recent advances in psychiatric genetics have been made possible through large-scale collaborative efforts. These studies have begun to unearth many novel genetic variants associated with psychiatric disorders and behavioral traits in human populations. Significant challenges remain in characterizing the resulting disease-associated genetic variants and prioritizing functional follow-up to make them useful for mechanistic understanding and development of therapeutics. Model organism research has generated extensive genomic data that can provide insight into the neurobiological mechanisms of variant action, but a cohesive effort must be made to establish which aspects of the biological modulation of behavioral traits are evolutionarily conserved across species. Scalable computing, new data integration strategies, and advanced analysis methods outlined in this review provide a framework to efficiently harness model organism data in support of clinically relevant psychiatric phenotypes.
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影响因子：
14.9
作者：
Baker EJ;Jay JJ;Bubier JA;Langston MA;Chesler EJ
通讯作者：
Chesler EJ
DOI：
10.1111/acer.13362
发表时间：
2017-05
期刊：
Alcoholism, clinical and experimental research
影响因子：
--
作者：
Adkins AE;Hack LM;Bigdeli TB;Williamson VS;McMichael GO;Mamdani M;Edwards AC;Aliev F;Chan RF;Bhandari P;Raabe RC;Alaimo JT;Blackwell GG;Moscati A;Poland RS;Rood B;Patterson DG;Walsh D;Collaborative Study of the Genetics of Alcoholism Consortium;Whitfield JB;Zhu G;Montgomery GW;Henders AK;Martin NG;Heath AC;Madden PAF;Frank J;Ridinger M;Wodarz N;Soyka M;Zill P;Ising M;Nöthen MM;Kiefer F;Rietschel M;German Study of the Genetics of Addiction Consortium;Gelernter J;Sherva R;Koesterer R;Almasy L;Zhao H;Kranzler HR;Farrer LA;Maher BS;Prescott CA;Dick DM;Bacanu SA;Mathies LD;Davies AG;Vladimirov VI;Grotewiel M;Bowers MS;Bettinger JC;Webb BT;Miles MF;Kendler KS;Riley BP
通讯作者：
Riley BP
影响因子：
14.9
作者：
Benson DA;Cavanaugh M;Clark K;Karsch-Mizrachi I;Ostell J;Pruitt KD;Sayers EW
通讯作者：
Sayers EW
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
DOI：
10.1126/science.1262110
发表时间：
2015-05-08
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
GTEx Consortium
通讯作者：
GTEx Consortium