Search Results
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 …
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. 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 …
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 …
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 …
Staff
Dr. Lisa Helbling Chadwick is a deputy director in Division of Genome Sciences at the National Human Genome Research Institute. ​
… in rare genetic disorders where strategies such as whole exome sequencing were not successful.   Prior to joining …
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
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… that are absent from normal cells. The team sequenced the exome, the building blocks (nucleotides) in the …
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
… C, Rugarli EI, Langer T, Gahl WA, Toro C . Whole-exome sequencing identifies homozygous AFG3L2 mutations in a …
FAQ
On October 10, 2024, NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs: RFA-HG-24-021, RFA-HG-24-022, and RFA-HG-24-023. These FAQs contain questions answered during that webinar.
…  Will the Network consider other approaches besides Whole Exome Sequencing (WES)? Yes, we have included some … more about NHGRI expectations .  The NOFO calls for whole exome sequencing (WES) to be utilized by the SeqC. Given that … to decline analysis and storage of the remainder of their exome data that is not relevant to the conditions of …