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News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… interpretation or bias - and takes about three hours per exome to analyze an individual's protein-coding genes. … The … likelihood of a diagnosis." The researchers compared the exome in 97 undiagnosed patients to their 113 healthy … as 100 to 500 bad gene variants, Dr. Markello said. The exome analysis included programs aimed at detecting gene …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… … Databases such as the 1000 Genomes Project and the Exome Aggregation Consortium (ExAC) harbor large numbers of … NIH institutes will each contribute genome and exome sequences from existing research programs to the …
Secondary Genomics Findings Service
Secondary findings explained, eligible protocols, and services offered
… for clinical genomic testing, the SGFS currently annotates exome/genome sequencing data you send to us for the 73 genes … protocol that performs/performed human germline genome or exome sequencing on your participants? Yes No   Thank you for … this kind of information. … Annotate your de-identified exome or genome sequencing data for the presence of …
Secondary Genomics Finding Service
Clinical Research Staff and Protocol Coordinators
… Finding Service (SGFS) will annotate new and existing exome and genome sequencing data for the presence of … receiving secondary findings if you intend to submit your exome data to us for annotation. We assume that every patient's data we review has consented to have their exome analyzed for these variants. 2. Consider …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… … Scientific Planning Committee … Contacts … Whole-exome sequencing (WES) and whole-genome sequencing (WGS) are …
The Informed Consent Resource
Examples consent forms used by genomics research projects.
… Consultation Workgroup Informed Consent Task Force     NA Exome or Genome Sequencing Consent Genetics of Obesity, … Populations Return of Research Results December 2014 Exome or Genome Sequencing, Pediatric Consent Incorporation … Cancer Care Return of Research Results December 2014 Exome or Genome Sequencing, Pediatric Consent (En Español) …
Secondary Genomics Findings Service
The Secondary Genomics Finding Service (SGFS)
… Service (SGFS) will annotate your existing research exome/genome sequence data for the presence of possible …
File
… Exome or Genome Sequencing, Pediatric Consent Form …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… to the centers for DNA sequencing - or more specifically, exome or whole genome sequencing. The exome includes all the protein-coding genes in the genome. … skeptical when the program started in 2011," he said. "Exome sequencing had not really gone into production …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… from the Affymetrix Genome-Wide Human SNP 6.0 array, exome array genotypes, targeted dense SNP genotypes on selected genomic regions, and whole exome sequence data. The proteomics data were obtained using … genotypes from the Affymetrix Axiom PanAFR array, exome array genotypes from the Affymetrix Exome 319 array, …