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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 …
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, …
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 …
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 …
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 …
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., …
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. …
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 …
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.
… The National Human Genome Research Institute (NHGRI) has appointed Carolyn Hutter, … of Genome Sciences - the NHGRI division that leads research aiming to understand the function of the human … and genome sequencing, which included grants in the Clinical Sequencing Exploratory Research (CSER) program. She …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… significant role of VNTRs in human traits.  This research was funded by NIH through a grant to Steven … of MIT and Harvard; that grant is part of the NIH Research Project Grant Program ( PA-19-056 ). …  Since 2011, the Clinical Sequencing Evidence-generating Research (CSER) …