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News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… most of his days in extreme pain. He could barely walk and used a wheelchair. He saw numerous doctors in his … his lab at NHGRI. Dr. Kastner's team wanted to use genome sequencing to try to pinpoint if Rohith's condition was … somewhere else. From using mechanistic studies and genome sequencing to inform your patient care - that's unique to …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of … incredibly long, consisting of about 6 billion bases, DNA sequencing machines cannot read all the bases at once. … a method that leaves DNA molecules largely intact. These large DNA molecules were then analyzed by two different …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… understanding the full spectrum of human genomic variation and for understanding the genetic contributions to certain … will empower genetic studies of human disease. The full sequencing builds upon the work of the Human Genome Project , … Aganezov et al. A complete reference genome improves analysis of human genetic variation . Science 376. Doi: …
Staff
​Lin Lei is a biochemist at NHGRI's Center for Research on Genomics and Global Health. ​
… Lei is a Biochemist at the Center for Research on Genomics and Global Health (CRGGH), National Human Genome Research … she is the chef, receiving orders from the group members and making the dishes. Before joining CRGGH, Lin was a … ExonHit Therapeutics, conducting research using Agilent and Affymetrix microarrays for both clients and the company’s …
Staff
Shirley Freeman is an Intramural Program Assistant for NHGRI's Center for Research on Genomics and Global Health.
… Program Assistant for the Center for Research on Genomics and Global Health (CRGGH) housed under the Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch at the National … support to the Branch Chief, Research Staff, and Collaborators. Prior to joining NHGRI in March 2008, …
Staff
Shawneequa Callier is a special volunteer at NHGRI's Center for Research on Genomics and Global Health.
… with tenure in the Department of Clinical Research and Leadership at the George Washington University (GW) School of Medicine and Health Sciences (SMHS). For over a decade, she has also … a Special Volunteer at the Center for Research on Genomics and Global Health at the National Human Genome Research …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome … analysis of genomic datasets that expand considerably the scale of data available for analysis in the newborn period. … (ELSI) of the possible implementation of genomic sequencing of newborns.  Each research project collects a …
Educational Resources
Gene mapping is the process of establishing the locations of genes on the chromosomes.
… of genes on the chromosomes. … Chromosomes, Linkage Analysis, Genome Sequencing, DNA Sequencing, Chromosomes … Gene mapping refers … approach for gene mapping involves sequencing a genome and then using computer programs to analyze the sequence to …
Staff
Dr. Clesson Turner is the director of the Reverse Phenotyping Core and a staff clinician in the Center for Precision Health Research of the National Human Genome Research Institute.
… Turner, M.D. … Dr. Clesson Turner is a staff clinician and director of the NHGRI Reverse Phenotyping Core. In 1995, … data from participants that have undergone exome or genome sequencing. These participants are consented for re-contact … Wei JS, Guha U, Turner CE , Khan J, Thomas A. Whole-exome sequencing reveals germline-mutated small cell lung cancer …
Staff
Barbara Thomas is a scientific review officer for the Center for Inherited Disease Research (CIDR).
… … Dr. Barbara Thomas is the Scientific Review Officer and Executive Director of the NIH Center for Inherited … program that provides access to high throughput genotyping and next-generation sequencing services to NIH funded investigators through a …