Search Results
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… from the Genotype-Tissue Expression Project (GTEx) consortium, an NIH Common Fund project co-led by NHGRI and … published in Science and other journals, reflects the consortium’s decade-long work and describes the largest and … Landscape, Impact of Genomic Variation on Function (IGVF) Consortium, Human Genome Project, Genotype-Tissue Expression …
News Release
NIH is awarding $18.9 million towards research that aims to accelerate the use of genome sequencing in clinical care for all individuals.
… Clinical Sequencing Evidence-Generating Research (CSER2) Consortium. CSER2 builds upon the Clinical Sequencing Exploratory Research (CSER) Consortium , initiated in 2010 and funded by the National … care, Clinical Sequencing Evidence-Generating Research Consortium, CSER2, CSER, Lucia Hindorff Ph.D., Regina Smith …
About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
… The NHGRI-funded Human Pangenome Reference Consortium has released a high-quality collection of human … from the @genome_gov -funded Human Pangenome Reference Consortium ( @HumanPangenome ) have completed a collection of … group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… from a three-year effort by the Moebius Syndrome Research Consortium with support from NIH and the Moebius Syndrome … congenital facial weakness disorders. Toward this end, the consortium brought 63 people to the NIH Clinical Center … Carey, Irini Manoli M.D. Ph.D., Moebius Syndrome Research Consortium, Moebius syndrome Foundation, CRISPR-Cas9 …
News Release
NIH will fund grants totaling $38 million over five years to develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities.
… Prabarna Ganguly, Ph.D. … New consortium will include six study sites and one coordinating … not effective when used in diverse populations. The new consortium, called PRIMED , will pool genomic information … of Genomic Medicine at NHGRI. “This is an area where the consortium’s work will be critical.” The consortium will also …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) Pilot Project launched in September 2003 to identify all functional elements in the human genome sequence.
… Research Institute (NHGRI) launched a public research consortium named the Encyclopedia of DNA Elements (ENCODE) in … was announced by the International Human Genome Sequencing Consortium ( Finishing the euchromatic sequence of the human … proposed to create a highly interactive public research consortium to carry out a pilot project for testing and …
File
… Human Heredity and Health in Africa (H3Africa) Overall vision: To enhance capacity for using … leveraging resources and building interest http://h3africa.org 38% 19% 28% 15% >5%MAF (1000 Genomes) 1-5%MAF … research Support for projects of IC interest The H3Africa Consortium: Stage I 8 Collaborative Centers 7 Biomedical …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… current Chair of the Genome Analysis working group of the H3Africa Consortium and an NIH Distinguished Scholar. … The CCDGS … (AAS) known as the Human Health and Heredity in Africa (H3Africa) Consortium. The goals of the consortium are to …
News Release
Charles Rotimi, Ph.D., was awarded the Academy Medal for Distinguished Contributions in Biomedical Science by the New York Academy of Medicine. This honor, established in 1929, recognizes investigators with sustained and impactful accomplishments in biomedical research and an interest in translating these findings to advance human health.
… is now known as the Human Heredity and Health in Africa (H3Africa) Initiative . H3Africa, which started wrapping up in 2022, had 10 successful years that involved a consortium of nearly a thousand members and trainees in more …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2022.
… Predictions Seminar Series 7 Telomere-to-Telomere (T2T) Consortium T2T Website Nurk - The complete sequence of a … in Genomics 41 Human Heredity & Health in Africa (H3Africa) H3Africa Consortium Website Polygenic Risk Methods in Diverse …