Search Results
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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… and retroviral integration sites to the annotation of the genome of the ctenophore Mnemiopsis leidyi . Dr. Wolfsberg … and safety of retroviruses used as vectors in gene therapy studies. More recently, her group has expanded the pipeline … zebrafish gene knockout resource for the genome-wide study of gene function. Genome Res , 23(4):727-35. 2013. …
News Release
An international team of researchers including NIH has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa.
… , is the first to use both dense genotyping and whole-genome sequence data to explore the genomic-variation … have carried out only a modest number of genome-wide association studies, or GWAS, using continental African …
Educational Resources
BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer.
Educational Resources
Positional cloning is a laboratory technique used to locate the position of a disease-associated gene along the chromosome.
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… population. Classification of Gaucher Disease There is a wide variation of disease presentation and severity among … presentation of Gaucher disease worldwide. Again, there is wide span of symptoms, some patients are very similar to … of research of our team. … Ongoing, currently recruiting: Studies of Genetic Heterogeneity in Patients with Lysosomal …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… p.m. Current State of the Art in Variant Discovery and Association Amit Khera Laura Bierut Jonathan Haines 12:10 - … 23, 2019 8:00 - 8:15 a.m. Introduction: Variant and Genome Function NHGRI Staff 8:15 - 9:00 a.m. Current State of … is needed to overcome barriers to performing functional studies at scale? 10:15 - 10:30 a.m Breakout Session Charge …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… by researchers at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, … that carry genes). As we unlock the secrets of the human genome (the complete set of human genes), we are learning … by researchers at or associated with the National Human Genome Research Institute.​​ ​ … Genetic Disorder, Genetic …
15 Ways Genomics Influences Our World
Genomics is advancing the study of individual and communities of microbes.
… difference between 2018 and 15 years ago when the Human Genome Project was completed, is that genomics is now used … "flu shot." Even so, just one mutation in the virus's genome can make a big difference in the severity of someone's … next generation. Now that we can track various microbes' genome sequences very accurately, we can see that antibiotic …
Clinical Research
A study for patients with unexpected genetic results