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Event
NSIGHT explores the implications, challenges and opportunities associated with the possible use of genomic sequence information during the newborn period.
… Related Resources … The Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program was … and Human Development (NICHD) and the National Human Genomic Research Institute (NHGRI), two components of the … and opportunities associated with the possible use of genomic sequence information during the newborn period. The …
Healthcare Provider Education Resources
An online repository of peer-reviewed collections of genomics educational materials for genetic counselors, nurses, pharmacists, physician assistants, and physicians.
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
… Luria-O’Donnell Broad Institute Broad Institute Mendelian Genomic Research Center U01HG011755 Jennifer Posey Baylor …
AnVIL
The Data Use Oversight System (DUOS) is a semi-automated study registration and DAR management service informed by the GA4GH DUO standard, which enables the secondary use of human genomics and other controlled-access data in compliance with the informed consent of a study’s participants.
… Algorithms to Improve Decision-Making Workflows for Genomic Data Access and Management .” Biopreservation and … et al. “ Achieving Procedural Parity in Managing Access to Genomic and Related Health Data: A Global Survey of Data … Health Science Policy Analyst, NHGRI NHGRI Policy Panel: Genomic Data Sharing Policies: Challenges and Innovative …
Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
… the growing availability of large-scale human genetic, genomic, and phenotypic data affords opportunities to revisit … and equitable resources of aDNA that represent the genetic diversity of human populations across space and time. … genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic …
Research Funding
The developmental Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide variety of tissues from the pediatric period, including neonates through adolescents, in a post-mortem setting.
… human development. The dGTEx Project will establish a database, data portal, and associated tissue bank with data … of human tissues throughout development, filling a gap in genomic databases across developmental stages. The Non-Human … Expression (NHP dGTEx) Project will establish a resource database and associated tissue bank with data and samples …
Research Funding
MorPhiC aims to develop a consistent catalog of molecular and cellular phenotypes for null alleles for every human gene by using in-vitro multicellular systems.
… in pathways and networks, which is one of the compelling genomic research projects outlined in the NHGRI Strategic …
Research Funding
The Genotype-Tissue Expression (GTEx) Project will create a resource that researchers can use to study how inherited changes in genes lead to common diseases
… in genes lead to common diseases. It will establish a database and a tissue bank that can be used by many … was released to the scientific community through  the database of Genotype and Phenotype (dbGaP) . Additionally, …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… clinical sites. The DMCC will also support Research Cores (genomic sequencing, model organisms screening center, …
Genome Technology Program