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Talking Glossary
Next-generation DNA sequencing (abbreviated NGS) refers to the use of technologies for sequencing DNA that became available shortly after the completion of the Human Genome Project (which relied on the first-generation method of Sanger sequencing).
… became available shortly after the completion of the Human Genome Project (which relied on the first-generation method … became available shortly after the completion of the Human Genome Project (which relied on the first-generation method … and cheaper than their predecessors, NGS technologies can sequence an entire human genome in a single day and for less …
Event
Pre-application webinar on for the Molecular Phenotypes of Null Alleles in Cells (MorPhiC) data analysis validation centers funding opportunity announcement (FOA) on September 7, 2022.
… Phenotypes of Null Alleles in Cells (MorPhiC) Phase I: Data Analysis and Validation Centers (U01 Clinical trials not … Announcement … Webinar Materials … The National Human Genome Research Institute (NHGRI) will host a pre-application webinar for the MorPhiC Data Analysis Validation Centers funding opportunity …
News Release
Today, we are updating the way we manage data related to the NIH Genomic Data Sharing Policy.
… M.D., Ph.D. … Today, we are updating the way we manage data related to the NIH Genomic Data Sharing Policy to again … By Eric D. Green, M.D., Ph.D., Director, National Human Genome Research Institute Carrie D. Wollinetz, Ph.D., … to the NIH Genomic Data Sharing Policy. ​ … Eric Green, Genome Data Sharing Policy, privacy, genomic variants … …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… provide sequencing of the protein-coding portion of the genome, or exome. The clinical sequencing results will meet … Core. The facility will provide CLIA-certified genome sequence data for UDN patients and their family members in partnership …
Educational Resources
Bioinformatics is a subdiscipline of biology and computer science concerned with the acquisition, storage, analysis, and dissemination of biological data.
… storage, analysis, and dissemination of biological data. … Computational Science, Computer Science, Big Data, Biological Data, Bioinformatics … Bioinformatics, as related to genetics …
News Release
Micro-sized technologies are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology.
… DNA Sequencing Technology program of the National Human Genome Research Institute (NHGRI), a part of NIH. The new … costs and achieving a high quality of DNA sequencing data." This group of awards is the last for the Advanced DNA … Investigator: Mark Akeson, Ph.D. Investigators plan to sequence single DNA molecules by using a nanopore device …
Staff
​Chris Wellington is a program director for Computational Genomics and Data Science in the NHGRI Office of Genomic Data Science.
… is a program director for Computational Genomics and Data Science in the NHGRI Office of Genomic Data Science. His primary focus is in the Genome Informatics and Computational Biology Program, where … and computational biology awards, focusing on training, genome analysis tools and software resources. Mr. Wellington …
Data Sharing Policies
Sample informed consent language, aligned with each of the informational elements of consent for genomic data sharing (GDS) outlined by NIH as important to convey, in language understandable to prospective participants.
… Elements Outlined by NIH Guidance   Genomic and phenotypic data, and any other data relevant for the study (such as exposure or disease … future use and sharing of genomic and phenotypic data.   Example 1: Consent for General Research Uses (GRU)   …
Talking Glossary
While some sequencing technologies produce reads that are only a few hundred nucleotides long, some methods can generate reads that are thousands to hundreds of thousands of nucleotides long, known as “long-read DNA sequencing.”
… These long reads are easier to assemble because the sequence is broken into fewer fragments. … While some …
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… New sequence reveals genomic factors in fertility, including … a team of researchers funded by the National Human Genome Research Institute (NHGRI), part of the National … particularly difficult to complete. Assembling sequencing data is like trying to read a long book cut into strips. If …