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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 …
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 …
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
… 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 …
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… for functional studies • Encourage development of high- throughput assays and animal models for these genes AJHG … Measures with National Quality Forum (NQF) • Tumor-based screening for Lynch syndrome followed by cascade screening in …
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… scientific#community# ¥ Users#require#high+quality#data,# collected#in#a#systematic#manner# ¥ … fates#and#cell#states#continues#to#be# of#high#value# ¥ Profiling#cell#fates#and#cell#states#that# … activity in transgenic mouse enhancer assays and high throughput reporter assays. Such efforts are critical to …
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 …
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… biomedicine and biology. Very high priority was also attributed to simultaneous … epigenome, protein, etc. from the same sample; and high throughput genome modifications (by … These were followed closely by further scaling up high‐throughput DNA sequencing, transcriptome and …