美国临床详情页--基本信息

{ "code": 200, "msg": "查询成功", "data": [ { "brief_title": "Whole Genome Medical Sequencing for Genome Discovery", "official_title": "Whole Genome Medical Sequencing for Gene Discovery", "clinical_desc": [ "We aim to use genome scale medical sequencing (GSMS, to include exome and whole", "genome sequencing as appropriate) to discover causative molecular lesions for a set of rare, severe phenotypes hypothesized to be caused by either somatic mutations, germline de novo heterozygous mutations, germline inherited recessive, or germline inherited dominant mutations in currently unknown or uncharacterized genes. The goal of this research is threefold: to identify causative sequence variants for disorders whose molecular etiology was previously unknown, to apply this insight to both the rare disorders under study and more common phenotypes, and to enhance the study of mutation on a genome-wide level.", "We plan to recruit approximately three to six affected individuals along with both parents for each phenotype under study. Prospectively recruited trios will be brought to the NIH Clinical Center for brief clinical evaluations and molecular evaluation. Each trio will be consented to GSMS with the option to learn clinically relevant results, that is, those that explain the disorder in question (what we refer to as the primary variant ) as well as other clinically relevant findings discovered incidentally as part of the GSMS process (what we refer to as secondary variants ). Participants will be offered a return visit to NIH to learn these results.", "Sequence data generated at the NIH Intramural Sequencing Center (NISC) will be screened by staff in the Biesecker laboratory for sequence variants that conform to the hypothesized inheritance pattern. All sequence variants deemed clinically relevant will be validated in a CLIA-certified laboratory and the results returned to that participant. This protocol is being designed in a way that will provide the long-term potential for pursuing many different clinical projects." ], "study_type": "Observational", "clinical_phase": null, "study_design": [ "Observational Model: CohortTime Perspective: Prospective" ], "clinical_condition": [ "Congenital Anomaly", "Mental Retardation", "Rare Disorders" ], "clinical_intervention": null, "study_arms": null, "clinical_publications": [ { "article_doi": "10.1097/GIM.0b013e3181afbaed", "source_name": "Genetics in Medicine", "article_name": "Direct to consumer genetic testing: Avoiding a culture war", "article_pmid": "19606051", "article_author": "James P. Evans,Robert C. Green", "published_info": "2009 Aug;11(8):568-9" }, { "article_doi": "10.1046/j.1369-6513.2001.00140.x", "source_name": "Health Expectations", "article_name": "A measure of informed choice", "article_pmid": "11359540", "article_author": "T. M. Marteau,E. Dormandy,S. Michie", "published_info": "2001 Jun;4(2):99-108" }, { "article_doi": "10.1146/annurev.genom.9.081307.164359", "source_name": "Annual Review of Genomics and Human Genetics", "article_name": "Next-Generation DNA Sequencing Methods", "article_pmid": "18576944", "article_author": "Elaine R. Mardis", "published_info": "2008 Jan;9():387-402" } ] } ] }

美国临床详情页--基本信息

美国临床详情页--基本信息

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