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The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… updates and monitor the ‘Genomics2020’ calendar . … The Genome: Unlocking Life's Code  exhibition is currently … the field of genomics. …  Research studies that generate genome-sequence data rely on a reference sequence for making …
Event
Pre-application webinar on for the Molecular Phenotypes of Null Alleles in Cells (MorPhiC) data analysis validation centers funding opportunity announcement (FOA) on September 7, 2022.
… of Null Alleles in Cells (MorPhiC) Phase I: Data Analysis and Validation Centers (U01 Clinical trials not … Announcement … Webinar Materials … The National Human Genome Research Institute (NHGRI) will host a pre-application webinar for the MorPhiC Data Analysis Validation Centers funding opportunity announcement …
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.
… Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced … Aganezov et al. A complete reference genome improves analysis of human genetic variation . Science 376. Doi: …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… research. CCGO is co-sponsored by the National Human Genome Research Institute (NHGRI), the NIH Deputy Director … CCGO funds, the NIH Intramural Sequencing Center will sequence the exomes of 1,000 NIH Clinical Center patients. … Center; NHGRI clinical support for incidental findings analysis and counseling; and NIH Clinical Center sample …
Clinical Research
This team-based clinical service os provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… by NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will annotate de-identified research exome/genome data for the presence of possible actionable secondary … by NHGRI to Intramural Investigators employing exome/genome sequencing. ​ … DNA Sequencing, Exam Sequencing, …
News Release
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… … A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional … to supplant Sanger sequencing because of its ability to sequence millions of pieces of DNA at the same time - … The current standard "best practice" in some clinical genome sequencing laboratories requires positive NGS findings …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National … and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, … age of 8 years; almost half were female. Using facial analysis software and clinical criteria, the researchers …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… NHGRI resource programs such as the Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL).  … setting.   …  As the sun came up on 1997, the Human Genome Project (then in its seventh of 13 years) was adding megabases of genome sequence to public databases weekly, as large-scale DNA …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI). Funds are used to … applicable to newborn screening: Acquisition and analysis of genomic datasets that expand considerably the … Green Alan Beggs Brigham and Women's Hospital Genome Sequence-Based Screening for Childhood Risk and Newborn …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… Disease Genomics (CCDG) are a collaborative large-scale genome sequencing effort to comprehensively identify rare … NHLBI. We currently estimate that the CCDG program will sequence approximately 100K whole genomes and 125K whole … for Common Disease Genomics … Collaborative large-scale genome sequencing effort to identify rare risk and protective …