Search Results
Secondary Genomics Findings Service
Frequently Asked Questions and Resources
… clarify this for me? We recommend talking with your team’s bioinformatics staff or your collaborators whom perform the …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… learned how to extract DNA and even develop my own bioinformatics analyses. But these are not things that happen …
About NHGRI
NHGRI's Initial Review Group provides first-level peer review of grant applications.
… Members Blake, Judith A, Ph.D (2020) Department Of Bioinformatics and Computational Biology Jackson Laboratory …
Profile
After a lifelong obsession with completing things, Adam Phillippy has helped in the final completion of the human genome sequence. The researcher talks about his life path to genomics, his relationship with perfection and his next big thing.
… The Institute for Genomic Research offered Phillippy a bioinformatics engineering position. For several years, … degree. … After completing his Ph.D., Phillippy began a bioinformatics program with the U.S. Department of Homeland …
Jobs at NHGRI
NHGRI has multiple position openings for Health Scientist Administrators in the Division of Genome Sciences, Division of Genomic Medicine, Division of Extramural Operations, and Office of the Director.
… genetics or other related areas in human genomics or bioinformatics. Division of Genomic Medicine candidates …
Staff
Dr. Sudre is an Associate Investigator in Dr. Philip Shaw's Neurobehavioral Clinical Research within the Social and Behavioral Research Branch
… disorder (ADHD). Dr. Sudre uses his strong grounding in bioinformatics to tackle computational challenges inherent in …
News Release
NIH researchers have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate.
… Baxevanis, Ph.D., and Derek Gildea, Ph.D., from NHGRI’s Bioinformatics and Scientific Programming Core; Laura …
Staff
Dr. Joshua Denny is the head of the NHGRI Precision Health Informatics Section and Chief Executive Officer of the National Institutes of Health’s All of Us Research Program.
… Health Informatics Section relies on large scale data and bioinformatics approaches to more effectively characterize … a phenome-wide scan to discover gene-disease associations. Bioinformatics , 26 (9), 1205–1210. [ PubMed ] Kho, A.N., …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… CCGO will also leverage clinical, scientific and bioinformatics resources within participating institutes.  … …
Secondary Genomics Findings Service
Responsibilities as a PI, consent, type of data accepted, and how to apply
… is acceptable. Please do not send individual VCF files. Bioinformatics pipeline We strongly recommend the VCF file to …