Search Results
Staff
Dr. Tyra Wolfsberg is the associate director of the Bioinformatics and Scientific Programming Core at the National Human Genome Research Institute.
… and retroviral integration sites to the annotation of the genome of the ctenophore Mnemiopsis leidyi . Dr. Wolfsberg … M, Singleton AB, Wolfsberg TG, Sidransky E. A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy … zebrafish gene knockout resource for the genome-wide study of gene function. Genome Res , 23(4):727-35. 2013. …
Educational Resources
BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer.
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
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 … Mutations in Parkinson’s Disease ”, where the study demonstrated that mutations in the GBA1 gene give …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
15 Ways Genomics Influences Our World
Genomics is advancing the study of individual and communities of microbes.
… Genomics is advancing the study of individual and communities of microbes. … Did you … 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 …
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 …
Clinical Research
A study for patients with unexpected genetic results
… A new study is recruiting people who received unexpected genetic … … The Genomic Services Research Program (GSRP) is a study of people with "secondary results” from genetic … a secondary result, you may be eligible to join this study. The purpose of this study is to learn about how people …
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 - … Room ) How much more sequencing, if any, is needed to study Mendelian and common disease, and what should NHGRI do … 23, 2019 8:00 - 8:15 a.m. Introduction: Variant and Genome Function NHGRI Staff 8:15 - 9:00 a.m. Current State of …