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. …
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 …
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 - …
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.
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. 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 …
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, …