Search Results
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… from being a Center (the National Center for Human Genome Research). That means NHGRI just turned 22 years old as an … strategic planning process, a workshop focusing on the research opportunities for connecting genomic variation to … After ~16 years as Clinical Director within NHGRI's Intramural Research Program, …
Clinical Research
FAQs for Autoinflammatory Diseases Study providers and researchers.
… on new genetic discoveries. We can search our database of clinical and genetic data to see if we have a match. We may … Ivona Aksentijevich if you would like to further discuss research opportunities. … Clinical Research …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… The National Human Genome Research Institute (NHGRI) has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and … His efforts will integrate laboratory-based and clinical methods to study several pediatric diseases, … Dr. Neil Hanchard joins NHGRI as a clinical investigator …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
… have led to substantial reductions in the cost of genome sequencing. The underlying costs associated with different methods and strategies for sequencing genomes are of great interest because they influence the scope and scale of almost all genomics research projects. …
Research at NHGRI
The NIH Intramural Sequencing Center is a multi-disciplinary genomics facility that emphasizes the generation and analysis of DNA sequence.
… The NIH Intramural Sequencing Center (NISC) , established in 1997, is a … procedures. NISC's role within the National Human Genome Research Institute (NHGRI), and more broadly across NIH, aims … methods to analyze genomics data with applicability to clinical and basic science questions that were thought to be …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… - particularly rare childhood diseases - is moving from research laboratories into general medical practice. Now, two … "This primer illustrates how rapidly the use of genome sequencing has moved into clinical practice," said NHGRI Director Eric D. Green, M.D., …
Fact Sheets
Data used to estimate the cost of sequencing the human genome over time since the Human Genome Project.
… For many years, the National Human Genome Research Institute (NHGRI) has tracked the costs associated with DNA sequencing performed at the sequencing centers funded by the Institute. This information … quality [see below]; (2) "Cost per Genome" - the cost of sequencing a human-sized genome. For each, a graph is …
Event
On April 10-11, the National Human Genome Research Institute (NHGRI) sponsored a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC.
… On April 10-11, the National Human Genome Research Institute (NHGRI) sponsored a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC. … longitudinally in patient care — that is, whole genome sequencing — rather than many different orderable panels. …
Research Training
Institutional and individual funding from NHGRI to help scientists develop research and professional skills.
… to improve human health. The National Human Genome Research Institute (NHGRI) provides both institutional and … NOT-OD-24-134 : Extramural Loan Repayment Program for Clinical Researchers (LRP-CR) NOT-OD-24-135 : Extramural Loan Repayment Program for Pediatric Research (LRP-PR) NOT-OD-24-136 : Extramural Loan Repayment …
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… An international research team has generated the first truly complete sequence … sequence particularly difficult to complete. Assembling sequencing data is like trying to read a long book cut into … of the human genome, the T2T Consortium applied new DNA sequencing technologies and sequence assembly methods, as …