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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 …
News Release
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs. 
… Thomas, Ph.D. , as the new director of the NIH Intramural Sequencing Center (NISC). In this role, Dr. Thomas will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring … adapt and implement pioneering methodologies, such as whole-genome sequencing, that were made possible by new …
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 …