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Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… Newborn screening tests use a dried blood sample collected during the … characteristic that is indicative of a disease). … Newborn screening in the United States is a major public health … has saved countless lives. Each state runs its own newborn screening program, where almost all newborns are tested for …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… in prenatal blood tests warrant whole-body MRI cancer screening. … In the fall of 2022, Erica felt like she was on … blood draw, they have quickly become routine in pregnancy screening. Each year, around two million pregnant people in … 107 participants with abnormal or inconclusive prenatal screening results that might indicate the presence of cancer. …
Educational Resources
Fact sheets explaining complex concepts in genomics research to a non-scientific audience.
… DNA Sequencing, Epigenomics, Knockout Mice, Newborn Screening, Cost Of Sequencing A Human Genome, X Chromosome, Y …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… association study of LDL response to statins using high-throughput electronic health records analysis 4113F Elizabeth … – 11:45 a.m.  Session Title: Translating Genetics into Screening Programs Moderator, Teri Manolio Room 401 Colorado …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… NIH Intramural Sequencing Center (NISC) . NISC provides high-throughput DNA sequencing services to the NIH intramural … medicine Upcoming Webcasts October 10: Population Genomic Screening in Primary Care Pre-Application Webinar October …
Policy Issues
Scientific institutions are developing recommendations to support the responsible use of human gene-editing research.
… research. Dr. Shawn Burgess' lab at NHGRI has developed a high-throughput pipeline that can create multiple, simultaneous …
Policy Issues
Scientists have edited genomes for many years, but CRISPR technology has improved the speed, cost, accuracy, and efficiency of genome editing
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… recombination is that it is inaccurate and has a high rate of error when the injected DNA fragments insert … J., Xu, L. S., Gallardo, V., . . . Burgess, S. M. (2015). High-throughput gene targeting and phenotyping in zebrafish using …
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… … Technological advances in DNA sequencing have made high-throughput sequencing methods significantly faster and …
Policies and Guidance
Frequently Asked Questions regarding the GDS Policy expectations for NHGRI-funded genomic research.
… molecular data produced by array-based technologies or high-throughput sequencing technologies. Data pertinent to the …
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… Functional Analysis Develop genomic-scale technologies High-throughput oligonucleotide synthesis DNA microarrays …