Search Results
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… on our kyphoscoliosis IRX results (Nancy Miller), 4) whole exome sequencing and analysis of a large family with metopic … (Simeon Boyadjiev), and 5) targeted or whole exome sequencing and analysis of about 70 families with …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… variants in panels that include multiple genes, or whole exome or whole genome sequences Chromosomal tests analyze … types of data found in whole genome sequencing or whole exome sequencing test reports.  Jackson Laboratories (JAX) …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… Biesecker LG, et al. Prefernces for result delivery from exome sequencing/genome sequencing. Genet Med , 16(6):442-7. …
News Release
A two-day international gathering on genomic medicine from more than 25 countries recommended ways to improve the use of genomics in medicine.
15 Ways Genomics Influences Our World
Advances in genomics are reducing the cost of genome sequencing by a million-fold.
… Providers: Genetics Home Reference - What Are Whole Exome and Whole Genome Sequencing? The Jackson Laboratory - …
Staff
Dr. Bailey-Wilson is a scientist emeritus in NHGRI's Division of Intramural Research.
… and qualitative trait variation in the GAW 17 mini-exome sequence data. BMC Proceedings , 5(Suppl 9):S83. 2011. … Wu-Chou YH, Doheny KF, Ling H, Scott AF, Beaty TH. Whole Exome Sequencing of Distant Relatives in Multiplex Families …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… using single nucleotide polymorphism (SNP) arrays and exome sequencing, and pursues functional evidence that the … Technical advances have included the development of whole exome sequence filtering programs for small families, …
Clinical Research
FAQs for participants in the Autoinflammatory Diseases Study.
… (called panel sequencing) or looking at all 20,000 genes (exome or genome sequencing). Because this type of testing … counselor, Natalie Deuitch , at any time. With panel or exome/genome sequencing, we may come across changes in genes … also be referred to a local specialist.  I’ve already had exome/genome sequencing (or my home provider is in the …
Staff
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
News Release
NHGRI hosted two Pathway to Independance awardees and supported 18 additional investigators at institutions nationwide.
… Yu, Ph.D., University of Washington, Seattle, Returning Exome and Whole Genome Results to Underserved Minority …