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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Staff
Dr. Tyra Wolfsberg is the associate director of the Bioinformatics and Scientific Programming Core at the National Human Genome Research Institute.
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… 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 …