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Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… of genomic datasets that expand considerably the scale of data available for analysis in the newborn period. Clinical … (ELSI) of the possible implementation of genomic sequencing of newborns. Each research project collects a … Carolina at Chapel Hill NC NEXUS, North Carolina Newborn Exome Sequencing for Universal Screening … Overview … …
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.
… will empower genetic studies of human disease. The full sequencing builds upon the work of the Human Genome Project , … genomic variation, disease and evolution.” The cost of sequencing a human genome using “short-read” technologies, … in assembled genome sequences. The massive drop in DNA sequencing costs comes hand-in-hand with increased …
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, … recently published guidance on incorporating genomic data into electronic health records (EHRs). EHRs are a … for Inherited Disease Research (CIDR) High Throughput Sequencing and Genotyping Resource Access (X01) Limited …
News Release
Researchers used whole genome sequence data to investigate the origin of the mutation that causes "sickling" of red blood cells.
… and Global Health (CRGGH), have used whole genome sequence data to investigate the origin of the mutation that causes … the Sickle Allele … Researchers used whole genome sequence data to investigate the origin of the mutation that causes … Daniel Shriner … Researchers used whole genome sequence data to investigate the origin of the mutation that causes …
Event
NHGRI meeting focused on research that rapidly advances best practices for the implementation of genomic sequence data into clinical care.
… best practices for the implementation of genomic sequence data into clinical care, as well as research that combines … best practices for the implementation of genomic sequence data into clinical care. … NHGRI meeting focused on research … best practices for the implementation of genomic sequence data into clinical care. … Event …
Staff
Elena Ghanaim is the Policy Advisor for Data Science and Sharing within the Office of Genomic Data Science (OGDS) at the National Human Genome Research Institute (NHGRI)
… Elena Ghanaim is the Policy Advisor for Data Science and Sharing within the Office of Genomic Data Science (OGDS) at the National Human Genome Research … Institute (NHGRI). She spearheads NHGRI’s scientific data sharing policy development, oversight, and …
Staff
Dr. Shurjo Sen is a program director in NHGRI's Division of Genome Sciences who manages a portfolio of grants focused upon genomic data sciences, and is particularly interested in transitioning genomics from a centralized data repository model to cloud-based collaborative science.
… and manages a portfolio of grants at the intersection of data science and genomics. Apart from a wide-ranging interest … and implemented an array of robotics-based microbiome sequencing methods and corresponding analysis software to … JK, Accame DS, Chowdhury S, Singh LN; NISC Comparative Sequencing Program; CHARGE Consortium, Kavousi M, Peyser PA, …
Educational Resources
Pharmacogenomics is a branch of pharmacology concerned with using DNA and amino acid sequence data to inform drug development and testing.
… concerned with using DNA and amino acid sequence data to inform drug development and testing. … Amino Acids, … concerned with using DNA and amino acid sequence data to inform drug development and testing. … Educational …
Staff
Dr. Adam Phillippy is head of the Genome Informatics Section and the chief and senior investigator in the Center for Genomics and Data Science Research at NHGRI.
… Phillippy is the director of the Center for Genomics and Data Science research and head of the Genome Informatics … genomics datasets, focusing on the challenges of genome sequencing and comparative genomics. He is a pioneer of single-molecule sequencing for the reconstruction of complete genomes and is …
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 … tested Verkko with human and non-human genome sequencing data. The software quickly and precisely assembled the …