Search Results
Talking Glossary
An exome is the sequence of all the exons in a genome, reflecting the protein-coding portion of a genome. In humans, the exome is about 1.5% of the genome.
… Exome … An exome is the sequence of all the exons in a genome, … the protein-coding portion of a genome. In humans, the exome is about 1.5% of the genome. … An exome is the sequence of all the exons in a genome, …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… Joseph Kaegi … Ten intramural investigators will receive exome sequencing data as part of their clinical research … sequence the exomes of 1,000 NIH Clinical Center patients. Exome sequencing explores the 1-2 percent of the genome that … encourage the development of more resources for genome and exome sequencing within NIH. In their grant applications, …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… physicians already have ordered clinical genome or exome sequencing (CGES) for their patients, Leslie G. … thousands of patients would be getting clinical genome and exome sequencing." Exome sequencing amounts to an abridged version of the more …
Clinical Research
This team-based clinical service os provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… provided by NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will annotate de-identified research exome/genome data for the presence of possible actionable … provided by NHGRI to Intramural Investigators employing exome/genome sequencing. ​ … DNA Sequencing, Exam Sequencing, …
Secondary Genomics Finding Service
The SGFS can support annotation of up to 2000 exomes/genomes per year on a first-come, first-served basis.
Staff
Dr. Gerard Bouffard directs the Bioinformatics Group at the NIH Intramural Sequencing Center (NISC).
… Intramural Sequencing Center (NISC), bioinformatics, whole exome sequencing … Gerard Bouffard, NIH Intramural Sequencing Center (NISC), bioinformatics, whole exome sequencing … Dr. Gerard Bouffard directs the …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
… example, all of the exons in the human genome (the human 'exome') correspond to ~1.5% of the total human genome. … exons, which can then be sequenced to generate a 'whole-exome sequence' of a genome. Whole-exome sequencing does require extra laboratory manipulations, …
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… large amounts of data in a cancer patient's protein-coding exome, the portion of the genome where many key … To validate the tool, they tested its use in previous exome sequencing studies of 511 cancer patients. In 80 … to a clinical trial. ARTICLE: Van Allen, et al . Whole-exome sequencing and clinical interpretation of …
Fact Sheets
Data used to estimate the cost of sequencing the human genome over time since the Human Genome Project.
… Human Genome Project, Whole-genome Sequencing, Whole-exome Sequencing, Cost Of Sequencing Human Genome … Data used …
Research Training
The Clinical Center Genomics Opportunity promotes precision medicine and development of infrastructure to support clinical genomics at the NIH Clinical Center.
… we will offer partnering institutes access to subsidized exome sequence data on a total of 1,000 NIH Clinical Center … from several sources: a monetary subsidy of $600 per exome from the Director's Challenge Innovation Award Program … There will be no cost to the investigator for the exome sequencing. We are aiming to partner with a handful of …