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Enhanced Data from Orofacial Cleft Trios to Strengthen the Gabriella Miller Kids First (GMKF) Discovery Goals

口面裂三重奏的增强数据可强化 Gabriella Miller Kids First (GMKF) 发现目标

基本信息

批准号：
10599333
负责人：
Mary L. Marazita
金额：
$ 15.58万
依托单位：
UNIVERSITY OF PITTSBURGH AT PITTSBURGH
依托单位国家：
美国
项目类别：
财政年份：
2022
资助国家：
美国
起止时间：
2022-04-01 至 2025-03-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10599333
关键词：
African Anatomy Area Asian Behavior Therapy Biology Child Childhood Classification Cleft Lip Clinical Medicine Clinical Research Colombian Common Data Element Communities Complex Computer Analysis Computers Congenital Abnormality Consultations Data Data Element Data Set Dental Disease Economics Equipment and supply inventories Ethnic Origin Etiology European Face Filipino Genetic Genetic Variation Genome Genotype Goals Grant Human Individual Infant Mortality Information Retrieval Intervention Knowledge Latin American Life Link Live Birth Malignant Childhood Neoplasm Malignant Neoplasms Medical Medical History National Institute of Dental and Craniofacial Research Nutritional Ontology Operative Surgical Procedures Palate Phenotype Population Pregnancy Histories Public Health Rare Diseases Readability Recording of previous events Research SNP array Semantics Speech Standardization Structural Congenital Anomalies Structure Treatment Cost United States National Institutes of Health Vocabulary bioinformatics resource biomedical ontology clinical application computable phenotypes data harmonization data resource database of Genotypes and Phenotypes feeding genome sequencing high risk human disease improved mortality orofacial cleft phenotypic data proband programs sex whole genome

项目摘要

ABSTRACT Nonsyndromic orofacial clefts (OFCs) of the lip (CL), palate (CP), or both (CLP) occur in about 1/700 live births worldwide, and thus comprise a significant proportion of human structural birth defects. OFCs require surgical, nutritional, dental, speech, medical, and behavioral interventions, imposing substantial public health, economic, and personal burdens. On average a child with an OFC initially faces feeding difficulties, then undergoes intensive medical, dental, and speech interventions, leading to an estimated total lifetime treatment cost of about $200,000. Further, individuals born with an OFC have higher infant mortality, higher mortality rates at all other stages of life, and higher risk for other disorders (notably including some cancers). The etiology of OFCs is complex, clearly including a major genetic component with approximately 50 significantly associated loci identified to date. Thus we and others have received support from various NIH programs for SNP array genotyping, and also, notably, for whole-genome sequencing (WGS) primarily from the Gabriella Miller Kids First Initiative (GMKF). To date, we have received WGS through five separate GMKF grants for a total of 1,486 OFC proband trios. The sequence data from these projects are shared through the GMKF Data Resource Center and the phenotype data through the GMKF Data Resource Center and (in xome cases) dbGaP. To date, the most critical phenotype data has been uploaded to dbGaP (e.g. sex, population/ethnicity, OFC type), but there is a wealth of other phenotypic data available from these studies (e.g. details on the OFC birth defect, pregnancy history, medical/surgical history, etc) that is not yet part of the available data for these projects. The goal of this project is to make additional semantically curated data elements from the OFC studies available to the research community through GMKF, in order to expand the scope and value of the data from the GMKF orofacial cleft trios and to facilitate cross GMKF-study analyses.

摘要