ID
45813
Descrizione
Principal Investigator: Leslie G. Biesecker, MD, National Institutes of Health, Bethesda, MD, USA MeSH: Atherosclerosis https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000971 ClinSeq is a pilot project to investigate the use of whole-genome sequencing as a tool for clinical research. By piloting the acquisition of large amounts of DNA sequence data from individual human subjects, we are fostering the development of hypothesis-generating approaches for performing research in genomic medicine, including the exploration of issues related to the genetic architecture of disease, implementation of genomic technology, informed consent, disclosure of genetic information, and archiving, analyzing, and displaying sequence data. In the initial phase of ClinSeq, we are enrolling roughly 1000 participants; the evaluation of each includes obtaining a detailed family and medical history, as well as a clinical evaluation. The participants are being consented broadly for research on many traits and for whole-genome sequencing. Initially, Sanger-based sequencing of 300-400 genes thought to be relevant to atherosclerosis is being performed, with the resulting data analyzed for rare, high-penetrance variants associated with specific clinical traits. The participants are also being consented to allow the contact of family members for additional studies of sequence variants to explore their potential association with specific phenotypes. Here, we present the general considerations in designing ClinSeq, preliminary results based on the generation of an initial 826 Mb of sequence data, the findings for several genes that serve as positive controls for the project, and our views about the potential implications of ClinSeq. The early experiences with ClinSeq illustrate how large-scale medical sequencing can be a practical, productive, and critical component of research in genomic medicine. Reprinted from Genome Res. 2009 Sep; 19(9): 1665-1674, with permission from Genome Research, PMID: 19602640.
collegamento
Keywords
versioni (1)
- 29/06/23 29/06/23 - Simon Heim
Titolare del copyright
Leslie G. Biesecker, MD, National Institutes of Health, Bethesda, MD, USA
Caricato su
29 giugno 2023
DOI
Per favore, per richiedere un accesso.
Licenza
Creative Commons BY 4.0
Commenti del modello :
Puoi commentare il modello dati qui. Tramite i fumetti nei gruppi di articoli e articoli è possibile aggiungere commenti a quelli in modo specifico.
Commenti del gruppo di articoli per :
Commenti dell'articolo per :
Per scaricare i modelli di dati devi essere registrato. Per favore accesso o registrati GRATIS.
dbGaP phs000971 The ClinSeq Project: Piloting Large-Scale Genome Sequencing for Research in Genomic Medicine
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- This subject consent data table includes subject IDs and consent group information.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- This subject phenotype data table includes sociodemography (n=4 variables; age at enrollment, sex, race, and ethnicity), anthropometric measurements (n=4 variables; height, weight, occipitofrontal and abdomnial circumference), coronary calcium score, echocardiogram measurements (n=19 variables), EKG measurements (n=12 variables), heart rate and blood pressure (n=6 variables), hematologic measurements (n=15 variables; CBC, fibrinogen, FVII, HbA1C, and troponin), lipids (n=24 variables), inflammatory markers (n=3 variables), metabolic hormonal (n=65 variables), urine analysis (n=17 variables), and medications (n=7 variables).
- This sample attributes data table includes body site where sample was collected, analyte type, sequencing center, and type of sequencing done on the sample.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- This subject consent data table includes subject IDs and consent group information.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- This subject phenotype data table includes sociodemography (n=4 variables; age at enrollment, sex, race, and ethnicity), anthropometric measurements (n=4 variables; height, weight, occipitofrontal and abdomnial circumference), coronary calcium score, echocardiogram measurements (n=19 variables), EKG measurements (n=12 variables), heart rate and blood pressure (n=6 variables), hematologic measurements (n=15 variables; CBC, fibrinogen, FVII, HbA1C, and troponin), lipids (n=24 variables), inflammatory markers (n=3 variables), metabolic hormonal (n=65 variables), urine analysis (n=17 variables), and medications (n=7 variables).
- This sample attributes data table includes body site where sample was collected, analyte type, sequencing center, and type of sequencing done on the sample.
C0680251 (UMLS CUI [1,2])
C1882932 (UMLS CUI [1,2])
C2827424 (UMLS CUI [1,3])
C0010054 (UMLS CUI [1,4])
C5442395 (UMLS CUI [1,5])
C1510756 (UMLS CUI [1,6])
C0441833 (UMLS CUI [2,1])
C5442395 (UMLS CUI [2,2])
C1956346 (UMLS CUI [2,3])
C0011900 (UMLS CUI [2,4])
C0262926 (UMLS CUI [2,5])
C0027051 (UMLS CUI [2,6])
C4699471 (UMLS CUI [2,7])
C2348535 (UMLS CUI [2,8])
C5244011 (UMLS CUI [2,9])
C1510756 (UMLS CUI [3,1])
C0010054 (UMLS CUI [3,2])
C3830527 (UMLS CUI [3,3])
C0040405 (UMLS CUI [3,4])