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Staff
Dr. Tyra Wolfsberg is the associate director of the Bioinformatics and Scientific Programming Core at the National Human Genome Research Institute. ​
… with NHGRI investigators on a variety of projects, from genomic characterizations of DNAse I hypersensitive sites and … BD, Nguyen A-D, Bear KA, Wolfsberg TG. Clinical Genomic Database. Proc Natl Acad Sci U S A, 110(24):9851-5. 2013. [ … GG, Blakesley RW, Wolfsberg TG, Turner ML, Segre JA. A diversity profile of the human skin microbiota. Genome …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… … An international team of researchers has identified genomic mutations for Carey-Fineman-Ziter (CFZS) syndrome, a … of a DNA sequence). They also employed the most up-to-date genomic tools, including exome sequencing of blood DNA in … biopsy in one of the affected individuals. To identify the genomic mutations associated with CFZS, three laboratories - …
Jobs at NHGRI
NHGRI is seeking applicants for the position of Program Director (PD) of Laboratory Genetics and Genomics (LGG) Fellowship & Director of Genetics Education (DGE), which plays a critical role in leading and overseeing all aspects of our ACGME-accredited programs.
… teams related to the use and interpretation of genetic/genomic tests. The DGE/LGG PD will engage with labs within …
News Release
Most pregnant women want recommendations from their doctors when deciding which information to receive from prenatal whole genome sequencing.
… few years, it will significantly increase the amount of genomic information parents can learn about their fetus. But … their clinicians when faced with a tremendous range of genomic information," said Benjamin E. Berkman, J.D., M.P.H., … will need additional training on how to present fetal genomic information in a way that meets an individual woman's …
Staff
Elaine Ostrander is chief of NHGRI's Cancer Genetics and Comparative Genomics Branch.
… human and canine genetics. Her lab uses state-of-the-art genomic approaches to identify prostate cancer susceptibility … set of phenotypes. Recognizing that this combination of diversity and uniformity provides an exceptional opportunity … The Ostrander lab assembled the first catalogues of canine genomic variation, constructed the first linkage map, and was …
Staff
Dr. Meru Sadhu is the head of the Systems Biology and Genome Engineering Section at the National Human Genome Research Institute. ​
… reveal pangenomic variation underlying yeast phenotypic diversity . Genome Research. 33(5):729-740. 2023. Andreev I, …
Staff
Dr. Sean Conlan is an associate investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.​
… plasmids. He is particularly interested in identifying genomic features that connect patients to each other or to … Belkaid Y, Segre JA and Kong HH. Staphylococcal strain diversity modulates atopic dermatitis disease pathogenesis. … and Segre JA. Single-molecule sequencing to track plasmid diversity of hospital-associated carbapenemase-producing …
Staff
Dr. Adam Phillippy is head of the Genome Informatics Section and the chief and senior investigator in the Center for Genomics and Data Science Research at NHGRI.
… and metagenomics. Early in his career at The Institute for Genomic Research, he developed algorithms for whole-genome … bases of additional sequence and enabling new studies of genomic function and disease. Dr. Phillippy received his B.S. … only a single haplotype and does not capture the full diversity of human genomes. This limitation can affect the …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… and Inova Health System researchers are launching The Genomic Ascertainment Cohort (TGAC), a two-year pilot project … that cause or contribute to them. NIH will establish a new database of 10,000 human genomes and exomes, the 1-2 percent … consent to be re-contacted will participate in TGAC.   The Genomic Ascertainment Cohort (TGAC) offers a …
News Release
NHGRI has selected Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural Research Program.
… collection of genome sequences that captures more human diversity. “Adam’s vision for our new Center will uniquely … applied genomics, comparative genomics, bioinformatics and genomic medicine. The newly established Center and its … a fundamental challenge in genomics: understanding how genomic variants affect genome function in giving rise to …