Leveraging identity-by-descent information in large-scale population sequencing
在大规模群体测序中利用血统身份信息
基本信息
- 批准号:8704772
- 负责人:
- 金额:$ 33.76万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2012
- 资助国家:美国
- 起止时间:2012-09-20 至 2016-07-31
- 项目状态:已结题
- 来源:
- 关键词:AdoptedAgeAllelesComplexComputer softwareComputing MethodologiesDataData SetDiseaseFamily StudyGenesGeneticGenetic DeterminismGenetic PolymorphismGenetic VariationGenomeGenotypeHaploidyHaplotypesIndividualLarge-Scale SequencingLinkage DisequilibriumMapsMethodsModelingMutationNatural SelectionsParentsPathway interactionsPatternPhenotypePopulationProxyResearch DesignRiskSamplingSchizophreniaSingle Nucleotide PolymorphismStatistical MethodsStratificationStretchingTestingTranslatingVariantWorkbasecase controldisorder riskempoweredexomeexome sequencingfollow-upgenome sequencinggenome-wideinsightloss of function mutationneuropsychiatrynoveloffspringpopulation basedrare varianttrait
项目摘要
DESCRIPTION (provided by applicant): This project aims to develop ways in which the patterns of shared ancestral gene-flow for specific chromosomal segments can be inferred between seemingly-unrelated individuals and used to empower analyses of rare mutations discovered by sequencing, with respect to association with diseases such as schizophrenia. Identity-by-descent (IBD) implies that two or more individuals each carry an extended stretch of haploid sequence that is a direct copy, or descendant, of a single, ancestral haplotype that resides (or once resided) in a recent common ancestor of those individuals. In large samples it is not unusual to find many thousands of instances in which seemingly unrelated individuals are, for some fraction of their genome, related exactly as closely as are parent and offspring. In the context of large, population-based studies of rare and common genetic variation, we propose that layering a map of intra-individual IBD sharing on top of datasets of rare mutation and polymorphism from sequencing can help in the daunting challenge of relating genetic variation to risk for common disease. Specifically, we propose to use IBD sharing information in sequencing studies to 1) identify likely de novo and very recent (private) mutations, 2) prioritize
rare variants for likely functional impact and 3) allow additional un-sequenced samples to prioritize rare alleles according to the likelihood they are causal given their IBD sharing with sequenced individuals. We will apply the methods developed here to two large schizophrenia sequencing studies, with whole-exome data on over 6,000 individuals and genome-wide SNP data on over 14,000. The statistical approaches developed here will be implemented and distributed as part of the PLINK/Seq software package.
描述(由申请人提供):该项目旨在开发方法,其中特定染色体片段的共享祖先基因流模式可以在无血缘关系的个体之间推断,并用于分析通过测序发现的罕见突变,与精神分裂症等疾病的相关性。血统同一性(IBD)意味着两个或更多个个体各自携带一段延伸的单倍体序列,该序列是单个祖先单倍型的直接拷贝或后代,该单倍型存在于(或曾经存在于)这些个体的最近共同祖先中。在大量样本中,我们经常会发现成千上万个看似无关的个体,在基因组的某个部分上,与父母和后代的关系一样密切。在对罕见和常见遗传变异进行的大规模、基于人群的研究的背景下,我们提出,在测序的罕见突变和多态性数据集之上分层绘制个体内IBD共享地图,可以帮助应对将遗传变异与常见疾病风险联系起来的艰巨挑战。具体来说,我们建议在测序研究中使用IBD共享信息,以1)识别可能的从头和最近(私人)突变,2)优先考虑
罕见变异体可能的功能影响,以及3)允许额外的未测序样品根据它们与测序个体共享IBD的因果关系的可能性来优先考虑罕见等位基因。我们将把这里开发的方法应用于两个大型的精神分裂症测序研究,其中包括6,000多个个体的全外显子组数据和14000多个全基因组SNP数据。这里开发的统计方法将作为PLINK/Seq软件包的一部分实施和分发。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
数据更新时间:{{ journalArticles.updateTime }}
{{
item.title }}
{{ item.translation_title }}
- DOI:
{{ item.doi }} - 发表时间:
{{ item.publish_year }} - 期刊:
- 影响因子:{{ item.factor }}
- 作者:
{{ item.authors }} - 通讯作者:
{{ item.author }}
数据更新时间:{{ journalArticles.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ monograph.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ sciAawards.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ conferencePapers.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ patent.updateTime }}
Shaun M Purcell其他文献
F95. GENETIC CORRELATES OF SLEEP SPINDLE ABNORMALITIES IN SCHIZOPHRENIA
F95. 精神分裂症睡眠纺锤波异常的遗传相关性
- DOI:
10.1016/j.euroneuro.2023.08.476 - 发表时间:
2023-10-01 - 期刊:
- 影响因子:6.700
- 作者:
Jun Wang;Nataliia Kozhemiako;Chenguang Jiang;Zhenglin Guo;Sinéad Chapman;Shen Li;Lu Shen;Shengying Qin;Michael Murphy;Dara Manoach;Zhenhe Zhou;Meihua Hall;Jen Q Pan;Hailiang Huang;Shaun M Purcell - 通讯作者:
Shaun M Purcell
ラウンドテーブル アナボリック・アンドロジェニック・ステロイド(パート2)
圆桌会议合成代谢和雄激素类固醇(第 2 部分)
- DOI:
- 发表时间:
2008 - 期刊:
- 影响因子:0
- 作者:
Alisa Manning;Heather M Highland;J. Gasser;Xueling Sim;Taru Tukiainen;Pierre Fontanillas;Niels Grarup;Manuel A Rivas;Anubha Mahajan;Adam E Locke;Pablo Cingolani;Tune H Pers;Ana Viñuela;Andrew Brown;Ying Wu;Jason Flannick;Christian Fuchsberger;Eric R Gamazon;Kyle J Gaulton;Hae Kyung Im;Tanya M Teslovich;Thomas W Blackwell;Jette Bork;Noël P Burtt;Yuhui Chen;T. Green;Christopher Hartl;Hyun Min Kang;Ashish Kumar;Claes Ladenvall;Clement Ma;Loukas Moutsianas;Richard D Pearson;John R B Perry;N. Rayner;Neil R Robertson;Laura J Scott;Martijn van de Bunt;Johan G Eriksson;Antti Jula;Seppo Koskinen;Terho Lehtimäki;Aarno Palotie;Olli T Raitakari;Suzanne BR Jacobs;J. Wessel;Audrey Y Chu;Robert A. Scott;Mark O Goodarzi;Christine Blancher;Gemma Buck;David Buck;Peter S Chines;Stacey Gabriel;Anette P Gjesing;Christopher J Groves;Mette Hollensted;Jeroen R Huyghe;Anne U Jackson;Goo Jun;Johanne Marie Justesen;Massimo Mangino;J. Murphy;Matt Neville;Robert Onofrio;Kerrin S Small;Heather M Stringham;Joseph Trakalo;Eric Banks;Jason Carey;Mauricio O Carneiro;Mark DePristo;Yossi Farjoun;Timothy J. Fennell;Jacqueline I Goldstein;George Grant;Martin Hrabé de Angelis;J. Maguire;Benjamin M Neale;Ryan Poplin;Shaun M Purcell;Thomas Schwarzmayr;Khalid Shakir;Joshua D Smith;Tim M. Strom;Thomas Wieland;Jaana Lindstrom;Ivan Brandslund;Cramer Christensen;Gabriela L Surdulescu;Timo A Lakka;Alex S F Doney;Peter Nilsson;Nicholas J Wareham;C. Langenberg;Tibor V Varga;Paul W Franks;Olov Rolandsson;Anders H Rosengren;Vidya S Farook;Farook Thameem;Sobha Puppala;Satish Kumar;Donna M Lehman;Christopher P Jenkinson;Joanne E Curran;Daniel Esten Hale;Sharon P Fowler;Rector Arya;Ralph A. DeFronzo;Hanna E Abboud;Ann;Pamela J Hicks;Nicholette D Palmer;Maggie C Y Ng;Donald W Bowden;Barry I Freedman;Tõnu Esko;Reedik Mägi;Lili Milani;Evelin Mihailov;Andres Metspalu;Narisu Narisu;Leena Kinnunen;Lori L Bonnycastle;Amy Swift;Dorota Pasko;Andrew R Wood;João Fadista;Toni I Pollin;Nir Barzilai;Gil Atzmon;Benjamin Glaser;Barbara Thorand;Konstantin Strauch;Annette Peters;Michael Roden;Martina Müller;L. Liang;Jennifer Kriebel;Thomas Illig;Harald Grallert;Christian Gieger;Christa Meisinger;Lars Lannfelt;Solomon K Musani;Michael D. Griswold;Herman A Taylor;G. Wilson;Adolfo Correa;Heikki Oksa;W. R. Scott;Uzma Afzal;Sian;Marie Loh;John C Chambers;Jobanpreet Sehmi;Jaspal Singh Kooner;Benjamin;Lehne;Yoon;Shin;Cho;Jong;Lee;Bok;Han;Annemari Käräjämäki;Qi Qi;Lu Qi;Jinyan Huang;Frank B. Hu;O. Melander;Marju Orho;David Aguilar;Tien Yin Wong;Jianjun Liu;Chiea;Kee Seng Chia;W. Y. Lim;Chingwen Cheng;E. Chan;E. S. Tai;Tin Aung;Allan Linneberg;Bo Isomaa;T. Meitinger;T. Tuomi;Liisa Hakaste;Jasmina Kravic;Marit E Jørgensen;T. Lauritzen;Panos Deloukas;Kathleen E Stirrups;Katharine R Owen;Andrew J Farmer;Timothy M Frayling;Stephen P O'Rahilly;M. Walker;Jonathan C Levy;Dylan Hodgkiss;Andrew T. Hattersley;Teemu Kuulasmaa;Inês Barroso;Dwaipayan Bharadwaj;Juliana Chan;G. R. Chandak;Mark J Daly;Peter J Donnelly;Shah B Ebrahim;Paul Elliott;Tasha Fingerlin;Philippe Froguel;Cheng Hu;Weiping Jia;R. C. Ma;Gilean McVean;Taesung Park;D. Prabhakaran;Manjinder Sandhu;J. Scott;Rob Sladek;Nikhil Tandon;Yik Ying Teo;Eleftheria Zeggini;Richard M Watanabe;Heikki A Koistinen;Y. A. Kesaniemi;Matti Uusitupa;Tim Spector;Veikko Salomaa;Rainer Rauramaa;Colin N A Palmer;Inga Prokopenko;Andrew D Morris;Richard N Bergman;Francis S. Collins;Lars Lind;Erik;Ingelsson;Jaakko;Tuomilehto;Fredrik;Karpe;Leif;Groop;Torben Jørgensen;Torben Hansen;Oluf Pedersen;Johanna Kuusisto;Gonçalo Abecasis - 通讯作者:
Gonçalo Abecasis
Shaun M Purcell的其他文献
{{
item.title }}
{{ item.translation_title }}
- DOI:
{{ item.doi }} - 发表时间:
{{ item.publish_year }} - 期刊:
- 影响因子:{{ item.factor }}
- 作者:
{{ item.authors }} - 通讯作者:
{{ item.author }}
{{ truncateString('Shaun M Purcell', 18)}}的其他基金
Value of Sleep Metrics in Predicting Opioid-Use Disorder Treatment Outcomes: Leadership and Data Coordinating Center
睡眠指标在预测阿片类药物使用障碍治疗结果中的价值:领导力和数据协调中心
- 批准号:
10783610 - 财政年份:2023
- 资助金额:
$ 33.76万 - 项目类别:
Longitudinal Relationships Among Sleep, Cognition and Alzheimer's Disease Biomarkers: Discerning Causal Associations, Mediators and Susceptibility
睡眠、认知和阿尔茨海默病生物标志物之间的纵向关系:辨别因果关系、中介因素和易感性
- 批准号:
10583493 - 财政年份:2021
- 资助金额:
$ 33.76万 - 项目类别:
Longitudinal Relationships Among Sleep, Cognition and Alzheimer's Disease Biomarkers: Discerning Causal Associations, Mediators and Susceptibility
睡眠、认知和阿尔茨海默病生物标志物之间的纵向关系:辨别因果关系、中介因素和易感性
- 批准号:
10399412 - 财政年份:2021
- 资助金额:
$ 33.76万 - 项目类别:
Enhanced Measurement and Modeling of Sleep Electrophysiology to Better Understand Sleep Disparities
增强睡眠电生理学测量和建模,以更好地了解睡眠差异
- 批准号:
10020195 - 财政年份:2019
- 资助金额:
$ 33.76万 - 项目类别:
Sleep Physiology Dynamics: Quantification, Characterization and Genetic Dissection
睡眠生理学动力学:量化、表征和基因剖析
- 批准号:
9902196 - 财政年份:2019
- 资助金额:
$ 33.76万 - 项目类别:
Genome-wide association study of sleep spindles and related polysomnography measures
睡眠纺锤波和相关多导睡眠图测量的全基因组关联研究
- 批准号:
9332476 - 财政年份:2016
- 资助金额:
$ 33.76万 - 项目类别:
Genome-wide association study of sleep spindles and related polysomnography measures
睡眠纺锤波和相关多导睡眠图测量的全基因组关联研究
- 批准号:
9019287 - 财政年份:2016
- 资助金额:
$ 33.76万 - 项目类别:
Leveraging identity-by-descent information in large-scale population sequencing
在大规模群体测序中利用血统身份信息
- 批准号:
8548408 - 财政年份:2012
- 资助金额:
$ 33.76万 - 项目类别:
Leveraging identity-by-descent information in large-scale population sequencing
在大规模群体测序中利用血统身份信息
- 批准号:
8419791 - 财政年份:2012
- 资助金额:
$ 33.76万 - 项目类别:
Software for the analysis of large-scale genotyping and sequencing studies
用于分析大规模基因分型和测序研究的软件
- 批准号:
8305019 - 财政年份:2010
- 资助金额:
$ 33.76万 - 项目类别:
相似国自然基金
靶向递送一氧化碳调控AGE-RAGE级联反应促进糖尿病创面愈合研究
- 批准号:JCZRQN202500010
- 批准年份:2025
- 资助金额:0.0 万元
- 项目类别:省市级项目
对香豆酸抑制AGE-RAGE-Ang-1通路改善海马血管生成障碍发挥抗阿尔兹海默病作用
- 批准号:2025JJ70209
- 批准年份:2025
- 资助金额:0.0 万元
- 项目类别:省市级项目
AGE-RAGE通路调控慢性胰腺炎纤维化进程的作用及分子机制
- 批准号:
- 批准年份:2024
- 资助金额:0 万元
- 项目类别:面上项目
甜茶抑制AGE-RAGE通路增强突触可塑性改善小鼠抑郁样行为
- 批准号:2023JJ50274
- 批准年份:2023
- 资助金额:0.0 万元
- 项目类别:省市级项目
蒙药额尔敦-乌日勒基础方调控AGE-RAGE信号通路改善术后认知功能障碍研究
- 批准号:
- 批准年份:2022
- 资助金额:33 万元
- 项目类别:地区科学基金项目
补肾健脾祛瘀方调控AGE/RAGE信号通路在再生障碍性贫血骨髓间充质干细胞功能受损的作用与机制研究
- 批准号:
- 批准年份:2022
- 资助金额:52 万元
- 项目类别:面上项目
LncRNA GAS5在2型糖尿病动脉粥样硬化中对AGE-RAGE 信号通路上相关基因的调控作用及机制研究
- 批准号:n/a
- 批准年份:2022
- 资助金额:10.0 万元
- 项目类别:省市级项目
围绕GLP1-Arginine-AGE/RAGE轴构建探针组学方法探索大柴胡汤异病同治的效应机制
- 批准号:81973577
- 批准年份:2019
- 资助金额:55.0 万元
- 项目类别:面上项目
AGE/RAGE通路microRNA编码基因多态性与2型糖尿病并发冠心病的关联研究
- 批准号:81602908
- 批准年份:2016
- 资助金额:18.0 万元
- 项目类别:青年科学基金项目
高血糖激活滑膜AGE-RAGE-PKC轴致骨关节炎易感的机制研究
- 批准号:81501928
- 批准年份:2015
- 资助金额:18.0 万元
- 项目类别:青年科学基金项目
相似海外基金
Collaborative Research: Resolving the LGM ventilation age conundrum: New radiocarbon records from high sedimentation rate sites in the deep western Pacific
合作研究:解决LGM通风年龄难题:西太平洋深部高沉降率地点的新放射性碳记录
- 批准号:
2341426 - 财政年份:2024
- 资助金额:
$ 33.76万 - 项目类别:
Continuing Grant
Collaborative Research: Resolving the LGM ventilation age conundrum: New radiocarbon records from high sedimentation rate sites in the deep western Pacific
合作研究:解决LGM通风年龄难题:西太平洋深部高沉降率地点的新放射性碳记录
- 批准号:
2341424 - 财政年份:2024
- 资助金额:
$ 33.76万 - 项目类别:
Continuing Grant
PROTEMO: Emotional Dynamics Of Protective Policies In An Age Of Insecurity
PROTEMO:不安全时代保护政策的情绪动态
- 批准号:
10108433 - 财政年份:2024
- 资助金额:
$ 33.76万 - 项目类别:
EU-Funded
The role of dietary and blood proteins in the prevention and development of major age-related diseases
膳食和血液蛋白在预防和发展主要与年龄相关的疾病中的作用
- 批准号:
MR/X032809/1 - 财政年份:2024
- 资助金额:
$ 33.76万 - 项目类别:
Fellowship
Atomic Anxiety in the New Nuclear Age: How Can Arms Control and Disarmament Reduce the Risk of Nuclear War?
新核时代的原子焦虑:军控与裁军如何降低核战争风险?
- 批准号:
MR/X034690/1 - 财政年份:2024
- 资助金额:
$ 33.76万 - 项目类别:
Fellowship
Walkability and health-related quality of life in Age-Friendly Cities (AFCs) across Japan and the Asia-Pacific
日本和亚太地区老年友好城市 (AFC) 的步行适宜性和与健康相关的生活质量
- 批准号:
24K13490 - 财政年份:2024
- 资助金额:
$ 33.76万 - 项目类别:
Grant-in-Aid for Scientific Research (C)
Discovering the (R)Evolution of EurAsian Steppe Metallurgy: Social and environmental impact of the Bronze Age steppes metal-driven economy
发现欧亚草原冶金的(R)演变:青铜时代草原金属驱动型经济的社会和环境影响
- 批准号:
EP/Z00022X/1 - 财政年份:2024
- 资助金额:
$ 33.76万 - 项目类别:
Research Grant
ICF: Neutrophils and cellular senescence: A vicious circle promoting age-related disease.
ICF:中性粒细胞和细胞衰老:促进与年龄相关疾病的恶性循环。
- 批准号:
MR/Y003365/1 - 财政年份:2024
- 资助金额:
$ 33.76万 - 项目类别:
Research Grant
Doctoral Dissertation Research: Effects of age of acquisition in emerging sign languages
博士论文研究:新兴手语习得年龄的影响
- 批准号:
2335955 - 财政年份:2024
- 资助金额:
$ 33.76万 - 项目类别:
Standard Grant
Shaping Competition in the Digital Age (SCiDA) - Principles, tools and institutions of digital regulation in the UK, Germany and the EU
塑造数字时代的竞争 (SCiDA) - 英国、德国和欧盟的数字监管原则、工具和机构
- 批准号:
AH/Y007549/1 - 财政年份:2024
- 资助金额:
$ 33.76万 - 项目类别:
Research Grant