Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Divisions
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… disease genes each year using a technique called whole-exome sequencing. This method sequences all the regions of … genome responsible for encoding proteins. However, whole-exome sequencing has not been successful in identifying the …
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… pathway. Her group reported one of the first whole-exome sequencing studies of serous endometrial carcinomas, in … 2012, the Bell laboratory published one of the first whole-exome sequencing studies of serous endometrial carcinomas, in … kinase, and AKT. In recent studies, using a combination of exome sequencing and targeted gene sequencing, the Bell …
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… for and reported during clinical encounters that involve exome and genome sequencing. [2]  While the recommendations … for reporting of incidental findings in clinical exome and genome sequencing. Genet Med,  15(7):565-574. … for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a …
Staff
Julie Sapp is a genetic counselor in the NHGRI in the Genomic Services Research Program (GSRP).
… the clinical demands of the expanding role of genome and exome sequencing and how to maximize the utility of genomic …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
Research at NHGRI
The NIH Intramural Sequencing Center is a multi-disciplinary genomics facility that emphasizes the generation and analysis of DNA sequence.
… The most common types of sequencing projects include whole exome sequencing, RNA sequencing, custom capture sequencing, …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… a person’s risk of developing leukemia. By conducting exome sequencing, which analyzes the coding portion of the … portion of the gene. The researchers also analyzed the exome sequences of participants to look for both somatic and …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… also employed the most up-to-date genomic tools, including exome sequencing of blood DNA in affected siblings from three … and John Carey, M.D., at the University of Utah - analyzed exome sequence data from each of the three families. Among …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… Research Institute Katrina Goddard, Benjamin Wilfond Exome sequencing in Diverse Populations in Colorado & Oregon … North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing 2 Multiple adult and pediatric diseases … Institute Levi Garraway and Pasi Janne The Use of Whole-Exome Sequencing to Guide the Care of Cancer Patients Lung …
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… production operations for high-volume processing of whole-exome sequence data sets. Other research in his group … Genomics , 11:406. 2010. [ PubMed ] Teer JK, Mullikin JC. Exome Sequencing: The Sweet Spot Before Whole Genomes. Hum … JE, Robinson W, Robinson S, Rosenberg SA, Samuels Y. Exome sequencing identifies GRIN2A as frequently mutated in …