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Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… (ELSI) of the possible implementation of genomic sequencing of newborns.   Each research project collects a … currently screened for in newborns, how can genomic sequencing replicate or augment known newborn screenig … Carolina at Chapel Hill NC NEXUS, North Carolina Newborn Exome Sequencing for Universal Screening … Overview … …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… had also accomplished a series of other goals, including sequencing the genomes of a set of model organisms. In fact, … for Inherited Disease Research (CIDR) High Throughput Sequencing and Genotyping Resource Access (X01) Limited …
News Release
NIH researchers have developed and released an innovative software tool, called Verso, to assemble truly complete (i.e., gapless) genome sequences from a variety of species. The software makes the process of assembling complete genome sequences more affordable and accessible.
… complete genome sequence.” The T2T consortium used new DNA sequencing technologies and analytical methods to generate … like putting together a jigsaw puzzle, and different DNA sequencing technologies generate different types of genomic … software quickly and precisely assembled the sequences of whole chromosomes, which was once a painstaking feat. As …
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… HapMap Project. Dr. Mullikin also developed a whole-genome assembly program, called Phusion. Dr. Mullikin … to analyze large data sets generated by systematic DNA sequencing projects. A highly skilled computational … production operations for high-volume processing of whole-exome sequence data sets. Other research in his group …
Profile
Jim Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics.
… Mullikin pioneered DNA sequencing technologies during the Human Genome Project and … finished just before I moved to NHGRI in 2003. Seeing the whole progress, from the very early days of Sanger sequencing all the way to a complete telomere-to-telomere …
Educational Resources
An anticodon is a trinucleotide sequence complementary to that of a corresponding codon in a messenger RNA (mRNA) sequence.
Educational Resources
A contig is a series of overlapping DNA sequences used to make a map that reconstructs the original DNA sequence of a chromosome or a region of a chromosome.
News Release
NHGRI researchers have identified a genomic signature for some aggressive prostate tumors, which may help healthcare providers pinpoint treatment options.
… proteins that fix damage to DNA. The research team used whole genome sequencing, a process that reveals the complete DNA make-up … cancer, genomic signatures, Elaine Ostrander Ph.D., whole genome sequencing, BRCA2 gene, PARP inhibitors … NHGRI …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… Genomics (CCDG) are a collaborative large-scale genome sequencing effort to comprehensively identify rare risk and … that the CCDG program will sequence approximately 100K whole genomes and 125K whole exomes during the life of the program. More information …
Fact Sheets
Comparative genomics is a field of biological research in which researchers compare the complete genome sequences of different species.
… biology of living things have changed over time. As DNA sequencing technology becomes more powerful and less … list continues to grow almost daily. In addition to the sequencing of the human genome, which was completed in 2003, … critical data for understanding genetic variation. DNA sequencing centers supported by NHGRI also have sequenced …