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The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… The Genome: Unlocking Life's Code  exhibition is currently … and opportunities associated with the possible use of genome sequence information in the care of newborns. Specifically, … This work is particularly relevant since most published genome-wide association study (GWAS) efforts have been …
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.
… The Genome: Unlocking Life's Code  exhibition is currently …  Research studies that generate genome-sequence data rely on a reference sequence for making … the more meaningful the comparative results. The human genome reference sequence is thus an essential resource for …
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 the first draft human genome sequence. … included leadership from researchers at the National Human Genome Research Institute (NHGRI), part of the National …
Clinical Research
This team-based clinical service is 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. ​ …
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 …
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 scale of data available for analysis in the newborn period. Clinical research that will …
News Release
NIH-funded researchers completed the PanCancer Atlas from over 10,000 tumors representing 33 types of cancer.
… Institutes of Health have completed a detailed genomic analysis, known as the PanCancer Atlas, on a data set of … said NIH Director Francis S. Collins, M.D., Ph.D. "This analysis provides cancer researchers with unprecedented … Cell journals, sums up the work accomplished by The Cancer Genome Atlas (TCGA) - a multi-institution collaboration …
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).  …  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 …
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.
… 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 …