Search Results
The Informed Consent Resource
Explore the basic elements of informed consent that are required by the Common Rule and that are relevant to genomics.
… somatic specimen with the intent to generate the genome or exome sequence of that specimen).” Participants must be … sequencing data, which is defined to also include whole exome sequencing. It may be helpful to distinguish between … [specify type of analysis, i.e., whole genome and/or whole exome sequencing] on your [specify type of specimen, i.e., …
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. …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
… of the core binding factors, Dr. Sood performed whole exome sequencing of tumor samples to identify cooperating … the application of genomic technologies, (e.g., whole exome sequencing or transcriptome profiling), zebrafish …
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 - …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… collection for deep-sequencing based omic analyses (whole exome sequencing, and RNA-Seq), as well as testing for …
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.
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, …