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News Release
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… that newer, faster, "next-generation" DNA sequencing (NGS) methods are as accurate - and perhaps more accurate - than … a lack of data showing that it's more accurate than newer methods." In addition, several studies in recent years have … - as accurately as Sanger sequencing. To compare both methods, Dr. Biesecker's group used patient DNA samples from …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… risk, which was groundbreaking. Later, we invented new methods that would allow us to include environmental risk … She and her team harnessed the power of statistics and computational techniques to show that genetics contributed to … current methods weren’t sufficient, they developed new computational approaches. In addition to her work in the …
File
… NHGRI Computational Genomics and Data Science Program Workshop: … genomic research topics relevant to the NHGRI extramural Computational Genomics and Data Science (CGDS) program • … analysis and visualization of large data sets 2. Methods and data that enhance understanding of how genotype …
Policy Issues
Genetic information is used by law enforcement to investigate criminal acts and exonerate those who have been convicted of crimes they did not commit.
… development of IGG. The technique differs from traditional methods in several important ways: The type of genetic … that span the genome. In comparison, traditional profiling methods like CODIS use only 13-20 designated microsatellites. …
Research at NHGRI
The Division of Intramural Research conducts scientific studies in NHGRI's labs on and around the NIH campus in Bethesda, Md.
… greater understanding of human disease and develop better methods for detection, prevention and treatment of heritable … analyses of gene expression; creation of innovative computational tools for analyzing large quantities of genomic …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… Genome Research Institute (NHGRI) are developing advanced methods for studying the fundamental mechanisms of inherited … Genome Research Institute (NHGRI) are developing advanced methods for studying the fundamental mechanisms of inherited …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… School of Medicine 3:50 PM - Break 4:10 PM – Session 5: Computational Tools to Enable Genetic Diagnoses Moderator: … (WES) and whole-genome sequencing (WGS) are commonly used methods for determining causal variants underlying Mendelian …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… of new experimental technologies and data-analysis methods. Such advances are readily applicable to ongoing … use different approaches to detect genomic variants. Some methods are designed to only detect known genomic variants. … whether a person has that genomic variant. With other methods, researchers can analyze a person’s DNA for the …
Research at NHGRI
A list of publications led by or in collaboration with the Center for Research on Genomics and Global Health.
… J, Hua X, Dias JA, Sun Q, Wang Y, Tan T; Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium Methods Working Group *; Atkinson EG, Martin A, Shortt J, … Public Health Genomics, 13:72-79. 2010. [ PubMed ] Methods Development Shriner D, Adeyemo A, Rotimi CN . Joint …
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… grant is part of the Investigator-Initiated Research in Computational Genomics and Data Science Grant Program ( … Solomon, M.D. , and his colleagues are using these computational tools to recognize and classify rare genetic … expression. Lastly, ML is being used for improving the methods for calculating polygenic risk scores , which reflect …