Search Results
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… Thomas JW, Sergeev YV, Blain D, Hufnagel RB, Cogliati T, Brooks BP. High-throughput custom capture sequencing … Clark TA, Luong K, Song Y, Tsai YC, Boitano M, Dayal J, Brooks SY, Schmidt B, Young AC, Thomas JW, Bouffard GG, … Lee-Lin, S.-Q., Benjamin, B., Cariaga, K., Brinkley, C.P., Brooks, S.Y., Granite, S., Guan, X., Gupta, J., Haghighi, P., …
Research Funding
The primary mission of the Alliance of Genome Resources (the Alliance) is to develop and maintain sustainable genome information resources that facilitate the use of diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This understanding is fundamental for advancing genome biology research and for translating human genome data into clinical utility.
…  FlyBase Brian Calvi, Ph.D., Indiana University Norbert Perrimon, …
News Release
The goat has contributed its DNA to a new method for high-quality, low-cost genome reconstruction, one that will be useful for reading human and other genomes.
… for high-quality, low-cost genome reconstruction. Credit: Brian L Sayre Dr. Phillippy heads the branch's Genome …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… and Self-Reported Descriptions of Genetic Conditions 1069T Brian N Lee Understanding ableism in abstracts for genetic …
File
… - 10.30 am Break 10.30 - 11.30 am Ophthalmi c Genetics Dr. Brian Brooks , Chief, Unit on Pediatric, Developmental & Genetic …
Research at NHGRI
Families Sharing Health Assessment and Risk Evaluation (SHARE) helps you and your family learn how your family health history affects your risk for diseases.
Event
On October 29, 2021, NHGRI will host the Future Directions of the NHGRI Analysis, Visualization, and Informatics Lab-space (AnVIL) workshop to identify gaps, challenges and future opportunities related to NHGRI’s investments in the AnVIL’s cloud-based infrastructure, tools and services.
… Introductions 12:40 - 12:55 p.m. AnVIL Presentation  Brian O’Connor, Ph.D. (Broad Institute) and Frederick Tan, …
Staff
Dr. Julie Segre is chief and a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… Clark TA, Luong K, Song Y, Tsai YC, Boitano M, Dayal J, Brooks SY, Schmidt B, Young AC, Thomas JW, Bouffard GG, … Genome Res , 23(7):1155-62. 2013. [ PubMed ] Yang JY, Brooks S, Meyer JA, Blakesley RR, Zelazny AM, Segre JA, … Comp Seq Program N, Becker J, Blakesley RR, Bouffard GG, Brooks S, Coleman HL, Gupta J, Gurson N, Park M, Schmidt B, …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… ACM, Perry MB, Brewer C, Zalewski C, Kim J, Solomon B, Brooks BP, Gerber LH, Turner M, Domingo DL, Hart TC, Graf J, … Sergeev YV Dolinska MB, Alur RP, Brilliant MH, Gahl WA, Brooks BP. Nitisinone improves eye and skin pigmentation … CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung H-YB, Le …