Search Results
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
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… Carolina at Chapel Hill NC NEXUS, North Carolina Newborn Exome Sequencing for Universal Screening … Overview … …
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
… a candidate gene was not identified by solely using whole exome sequencing. The DCC will manage data release and …
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 …