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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 …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… Research Institute Katrina Goddard, Benjamin Wilfond Exome sequencing in Diverse Populations in Colorado & Oregon … North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing 2 Multiple adult and pediatric diseases … Institute Levi Garraway and Pasi Janne The Use of Whole-Exome Sequencing to Guide the Care of Cancer Patients Lung …
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 …
Research Funding
Applications demonstrating excellent grantsmanship, grant mechanisms and research methodologies common to ethical, legal and social implications research.
… 2014 Summary Statement Full Application Returning Exome and Whole Genome Results to Underserved Minority …
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, …
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. 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 …
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 …