Center for Common Disease Genetics

常见疾病遗传学中心

• 批准号: 9913613
• 负责人: Mark Joseph Daly
• 金额: $ 1666.84万
• 依托单位: BROAD INSTITUTE, INC.
• 依托单位国家: 美国
• 财政年份: 2016
• 资助国家: 美国
• 起止时间: 2016-01-14 至 2021-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9913613
• 关键词: Address; African American; Alleles; Asians; Atrial Fibrillation; Authorization documentation; Biological; Budgets; Case-Control Studies; Clinical; Collection; Communities; Complement; Coronary Arteriosclerosis; Country; DNA; Data; Disease; Electronic Health Record; Environmental Risk Factor; Epidemiology; Epilepsy; Estonia; European; Finland; Frequencies; Funding; Genetic; Genetic Diseases; Genetic study; Genome; Genomics; Genotype; Goals; Grant; Health system; Hispanics; Individual; Inflammatory; Inflammatory Bowel Diseases; Institutes; Light; Link; Medical Genetics; Metabolic; Methods; Morbidity - disease rate; National Human Genome Research Institute; Non-Insulin-Dependent Diabetes Mellitus; Participant; Patients; Penetrance; Phenotype; Physiological; Physiology; Population; Population Genetics; Population Heterogeneity; Prevalence; Process; Recording of previous events; Research Design; Research Personnel; Resources; Sample Size; Sampling; Schizophrenia; Shotguns; Single-Payer System; Source; Stroke; Systemic disease; Testing; Time; Translating; Untranslated RNA; autism spectrum disorder; base; biobank; case control; comorbidity; cost; data sharing; data tools; early onset; epidemiology study; exome; experience; follow-up; gene discovery; genetic approach; genetic architecture; genomic platform; improved; insight; interest; middle age; mortality; nervous system disorder; neuropsychiatric disorder; protective allele; risk variant; whole genome

Project Summary Abstract Building on our 25-year track record in comprehensive genomic studies and addressing NHGRI's goal for this RFA, we propose to create, apply and test a powerful, reliable and general strategy for “comprehensive” identification of risk and protective variants that contribute significantly to any common disease of interest. Toward this end, we will: · Create a Common Disease Consortium (CDC) that brings together a collaborative network of investigators with deep clinical and genetic expertise and >1.1 million well-characterized samples (cases and controls) across diverse populations, including Europeans, African Americans, Hispanics and Asians. The CDC will undertake genetic studies under three major projects related to: (1) Five systemic diseases – early-onset coronary artery disease, type 2 diabetes, inflammatory bowel disease, atrial fibrillation, and stroke; (2) Three severe neurological disorders – autism, schizophrenia and epilepsy; and (3) Two countries with special advantages for genetic studies – Finland and Estonia. Through these three projects, the CDC will explore a range of study designs, population-genetic strategies, genetic architectures, and diverse populations. · Sequence 450,000 samples from the CDC, using the expertise of the Broad Institute's genomics platform to generate high quality data and to drive down sequencing costs. · Analyze the sequence data to elucidate the genetic basis of the diseases, by applying state- of-the-art methods from in our preliminary studies and developing new methods to increase power to detect association. · Create, disseminate and share data, tools, and resources, to enable the scientific community to access and analyze genetic studies from the CDC and other sources.

项目摘要

项目成果

Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.

• DOI: 10.1002/mgg3.2311
• 发表时间: 2024-01
• 期刊: Molecular genetics & genomic medicine
• 影响因子: 2

Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms.

• DOI: 10.1186/s12864-018-4703-0
• 发表时间: 2018-05-08
• 期刊: BMC genomics
• 影响因子: 4.4
• 作者: Costello M;Fleharty M;Abreu J;Farjoun Y;Ferriera S;Holmes L;Granger B;Green L;Howd T;Mason T;Vicente G;Dasilva M;Brodeur W;DeSmet T;Dodge S;Lennon NJ;Gabriel S
• 通讯作者: Gabriel S

CYP2C19 Genotyping in Anticoagulated Patients After Percutaneous Coronary Intervention: Should It Be Routine?

• DOI: 10.1161/circulationaha.121.057028
• 发表时间: 2022-03-08
• 期刊: Circulation
• 影响因子: 37.8
• 作者: Maamari DJ;Jaffer FA;Khera AV;Fahed AC
• 通讯作者: Fahed AC

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.

• DOI: 10.1093/brain/awac082
• 发表时间: 2022-07-29
• 期刊: Brain : a journal of neurology

Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases.

• DOI: 10.1038/s42255-021-00478-5
• 发表时间: 2021-11
• 期刊: Nature metabolism
• 影响因子: 20.8
• 作者: Ritchie SC;Lambert SA;Arnold M;Teo SM;Lim S;Scepanovic P;Marten J;Zahid S;Chaffin M;Liu Y;Abraham G;Ouwehand WH;Roberts DJ;Watkins NA;Drew BG;Calkin AC;Di Angelantonio E;Soranzo N;Burgess S;Chapman M;Kathiresan S;Khera AV;Danesh J;Butterworth AS;Inouye M
• 通讯作者: Inouye M