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NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… Carolina at Chapel Hill NC NEXUS, North Carolina Newborn Exome Sequencing for Universal Screening … Overview … …
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.
… a candidate gene was not identified by solely using whole exome sequencing. The DCC will manage data release and …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… genomes of 580 participants. It also generated whole exome sequencing data (focused on the proteins influencing … received a $12.6 million grant to analyze ADSP whole exome and whole genome sequence data generated from 6,000 …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
… genome-wide association studies, proteomics, and whole exome sequencing (WES). She has authored, and co-authored … T, Morgan ND, Shah AA, Mayes MD, Doumatey A et al.  Whole-Exome Sequencing to Identify Rare Variants and Gene Networks …
Secondary Genomics Findings Service
Frequently Asked Questions and Resources
… on proper consent language.  What if my project is for exome/genome sequencing of more than 300 participants per …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… Affymetrix Axiom PanAFR array) and the Affymetrix Axiom Exome Array. Using a sample of ~1800 subjects, the study … reflux (VUR) using a combination of linkage analysis, exome sequencing (WES) and functional studies in a 27-member … genomic studies, including chromosomal arrays and whole exome sequencing. The project is also facilitating the …
Staff
Dr. Lisa Helbling Chadwick is a program director in Division of Extramural Research at the National Human Genome Research Institute. ​
… in rare genetic disorders where strategies such as whole exome sequencing were not successful.   Prior to joining …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… the genome that codes directly for proteins, known as the exome. The researchers then compared the genetic changes …
Policy Issues
Informed consent shows respect for personal autonomy and is an important ethical requirement in research.
… studies that include whole genome sequencing , whole exome sequencing, epigenetic profiles, microbiotic profiles, …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… and metabolic testing. This often involves genome or exome sequencing to identify candidate genes that may be … the testing has given a definitive answer, then we move to exome or genome sequencing. This short-circuits that "doctor …