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| Project Title: | Cnv atlas of human development | |
| Principal Investigators (PI): |
LEDBETTER H
WAPNER |
|
| Project Number: | 1RC2HD064525-01 | |
| Organization: | EMORY UNIVERSITY | |
| Project Description: | ||
|---|---|---|
| [unreadable] (provided by applicant): The recent discovery that copy number variations (CNVs), the loss or gain of small genomic segments, is common in all normal individuals and plays a major role in human phenotypic variation and disease, has had a profound impact on our understanding of human genetic variation. However, our ability to predict which CNVs have biological or health significance is severely limited; the acquisition of more comprehensive and accurate CNV data from multiple normal and patient populations is an urgent research and public health priority. Powerful technologies for high-resolution CNV assessment are now available and have moved into clinical diagnostic use to evaluate children with unexplained intellectual disabilities, autism, or multiple birth defects (termed "molecular karyotypes" or cytogenomic arrays). Current multicenter trials are also underway to determine the efficacy of these technologies for prenatal diagnosis. It is very likely that cytogenomic arrays will become the method of choice for both pediatric and prenatal cytogenetic analysis within the next few years. The large number of cytogenomic array tests now being performed by clinical cytogenetics laboratories presents an unusual and timely opportunity to capture large datasets from patient populations to contribute to our understanding of the consequence of CNVs from clinical populations compared to normal populations. The overall goal of this project is to leverage this large clinical dataset generated in the course of clinical care to create a research resource for gene discovery related to human developmental disorders as well as to build an invaluable clinical resource for learning about the clinical and public health impact of CNVs. This project will encompass four specific aims: 1) Collection of very large standardized datasets from clinical array testing in pediatric and prenatal populations. Using a novel "opt-out" consent mechanism in addition to a traditional full informed consent model, we will develop methods for a large consortium of clinical sites and clinical genetics testing laboratories to collect and submit CNV and clinical data to a central, public data repository. 2) Standardize array design and genotype (CNV) data formats for clinical laboratories. In partnership with the International Standard Cytogenomic Array (ISCA) Consortium, we are developing standards for array design, resolution, format, and guidelines for interpretation of benign versus pathogenic CNVs. 3) Develop standardized clinical (phenotype) data. A Phenotype Workgroup will develop standard vocabularies and data dictionaries for phenotypic information using current international recommendations. 4) Data collection/repository, curation and visualization tool development. A database workgroup will oversee development of software bridges and adaptors to automate data de-identification, reformatting and transfer to a central public repository (dbGaP, NCBI). Methods for automated and expert data curation will be developed prior to public release for the research community as well as clinicians. User-friendly tools for data visualization and analysis will be developed in partnership with academic groups and commercial vendors. [unreadable] [unreadable] PUBLIC HEALTH RELEVANCE: The loss or gain of small regions in our genome, Copy Number Variations (CNVs), have recently been recognized as a major cause of both common and rare human diseases with enormous potential public health impact. Our current understanding of CNVs is limited: some are truly benign, some are thought to be benign but may in the future be shown to be associated with common diseases, and others are associated with disease and can provide important information for patients and families. To better understand CNVs, we propose a unique strategy to obtain high-quality, standardized data on CNVs linked to clinical information from very large populations (hundreds of thousands) during the course of routine clinical care in a prenatal and pediatric setting at minimal cost. [unreadable] [unreadable] [unreadable] | ||
| Project Terms: | ||
| 0-11 years old Adopted Amniocentesis Atlases Autism Autism, Early Infantile Autism, Infantile Autistic Disorder Basic Research Basic Science Benign Biological Biological Models Birth Defects CNP CYTOGEN Child Child Youth Childhood Children (0-21) Classification Clinical Clinical Data Clinical Research Clinical Study Collection Commit Communities Computer Programs Computer software Congenital Abnormality Congenital Anatomic Abnormality Congenital Anatomical Abnormality Congenital Defects Congenital Deformity Congenital Malformation Consent Copy Number Polymorphism Cytogenetic Cytogenetic Analyses Cytogenetic Analysis Cytogenetic Technics Cytogenetic Techniques Cytogenetics DNA Sequence Data Data Banks Data Bases Data Collection Data Quality Data Set Databank, Electronic Databanks Database, Electronic Databases Dataset Development Diagnosis, Antenatal Diagnosis, Ultrasound Diagnostic Dictionary Disease Disorder Echography Echotomography Education Educational aspects Ethics Evaluation Family Frequencies (time pattern) Frequency Funding Future G-Banding Genetic Genetic screening method Genetics, Human Genome Genomic Segment Genomics Genotype Gestation Goals Grant Guidelines Health Human Human Development Human Genetics Human, Child Human, General Imagery Individual Informed Consent Intellectual disability Intellectual functioning disability Intellectual limitation International Intrauterine Diagnosis Kanner's Syndrome Karyotype Laboratories Learning Link Man (Taxonomy) Man, Modern Medical Medical Imaging, Ultrasound Methods Model System Modeling Models, Biologic Molecular Molecular Cytogenetic Technics Molecular Cytogenetic Techniques Molecular Cytogenetics Molecular Genetic Abnormality Multicenter Studies Multicenter Trials Multiple Birth Offspring Multiple Births NICHD National Institute of Child Health and Human Development Participant Patient Care Patient Care Delivery Patients Phenotype Play Population Pregnancy Prenatal Diagnosis Procedures Process Programs (PT) Programs [Publication Type] Public Health Quality, Data Recommendation Recruitment Activity Research Research Priority Research Resources Resolution Resources Role Sampling Software Staging Standardization Systematics Technology Testing Ultrasonic Imaging Ultrasonogram Ultrasonography Ultrasound Test Ultrasound, Medical Variant Variation Vendor Visualization Vocabulary Vocabulary Words antepartum diagnosis base children clinical care clinical data repository clinical data warehouse clinical phenotype clinical research site clinical significance clinical site clinically significant cohort computer program/software copy number variation cost data format data repository database of Genotypes and Phenotypes design designing develop software developing computer software developmental disease/disorder developmental disorder diagnostic ultrasound disease/disorder experiment experimental research experimental study gene discovery genetic testing human disease improved karyogram laboratory facility novel patient population pediatric prenatal programs public health medicine (field) public health priorities public health relevance recruit relational database repository reproductive research study social role software development sonogram sonography sound measurement tool tool development ultrasound ultrasound imaging ultrasound scanning unborn user-friendly youngster | ||
| Project Title: | Cnv atlas of human development | |
| Principal Investigators (PI): |
LEDBETTER H
WAPNER |
|
| Project Number: | 1RC2HD064525-01 | |
| Organization: | EMORY UNIVERSITY | |
| Project Categories: | ||
|---|---|---|
|
• Natural Sciences > Experimental techniques > in vitro methods > Genomic analys > Serial analysis of gene expression (SAGE) |
||
| Other Information: | ||
| Fiscal Year: | 2009 | |
| Project Start Date: | 30 September 2009 | |
| Project End Date: | 31 August 2011 | Administering Institute Or Center: | HD |
| Project Funding Information: | ||
| Total Funding: | $1,727,519 | |
| Year | Funding Organization | Total Funding, $ |
|---|---|---|
| 2009 | EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT | $1,727,519 |
| Project Title: | Cnv atlas of human development | ||
| Principal Investigators (PI): |
LEDBETTER H
WAPNER |
||
| Project Number: | 1RC2HD064525-01 | ||
| Organization: | EMORY UNIVERSITY | ||
| Project_number | Title | Year | FY Total Cost |
|---|---|---|---|
| There are no results for this project in database. | |||
| Project Title: | Cnv atlas of human development | ||||
| Principal Investigators (PI): |
LEDBETTER H
WAPNER |
||||
| Project Number: | 1RC2HD064525-01 | ||||
| Organization: | EMORY UNIVERSITY | ||||
| Project number | Project title | Organization | FY | Funding Organization | FY Total Cost |
|---|---|---|---|---|---|
| 1RC2HD064525-01 | CNV Atlas of Human Development | EMORY UNIVERSITY | 2009 | EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT | $1,727,519 |
| Project Title: | Cnv atlas of human development | ||
| Principal Investigators (PI): |
LEDBETTER H
WAPNER |
||
| Project Number: | 1RC2HD064525-01 | ||
| Organization: | EMORY UNIVERSITY | ||
| Project number | Project title | Principal investigator | |
|---|---|---|---|
| There are no any related projects. | |||
| Project Title: | Cnv atlas of human development | |||
| Principal Investigators (PI): |
LEDBETTER H
WAPNER |
|||
| Project Number: | 1RC2HD064525-01 | |||
| Organization: | EMORY UNIVERSITY | |||
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