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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 …
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 … …
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 …
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 …
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)   …
Research Funding
GS-IT provides sequence analysis tools and software to scientists who rely on genomics in their research.
… researchers. This includes software dedicated to sequence quality, alignment, assembly, variant calling, … … Overview … Grantees … Program Staff … Related Content … Genome Sequencing Informatics Tools (GS-IT) provides … in their biological, biomedical and clinical research. … Genome Sequencing Informatics Tools … Genome Sequencing …
Staff
Valentina Di Francesco is NHGRI's Chief Data Science Strategist and Director of the Office of Genomic Data Science within the NHGRI Office of the Director.
… Valentina Di Francesco is NHGRI's first Chief Data science Strategist and Director of the Office of Genomic Data Science. In this role, she will provide leadership, … of microbial and mammalian genomes, including the human genome. Prior to that, she was a visiting research fellow at …