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Educational Resources
Genomic variation refers to diversity in gene frequencies.
… Genomic Variation … Genomic variation refers to diversity in gene frequencies. … Genetic Variation, Genetic Testing, Genetic Counselor, Newborn Screening, Family …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
Genetic Testing … Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. … Genetic Variation, Genetic Testing, Genetic Counselor, Newborn …
Media Availability
Researchers find that more than 80 percent of mouse genes had variations in the nearby regulatory DNA that affects gene activity.
… gene activity. … To paint a clearer picture of how such variation affects gene activity, Fernando Pardo Manuel de … When the researchers compared gene activity due to the genetic contributions from either parent, they found that … , provide new insights into the effects and roles of genetic variation and parental influence on gene activity in …
Research Funding
The Genomic Variation Program supports large-scale studies of human genetic variation.
… in the sequence of DNA among individuals are called genetic variation. Genomic variation explains some of the differences … same chromosome. The program also seeks to relate there genetic variants to functional variation and phenotype. The …
Educational Resources
A copy number variation (CNV) is when the number of copies of a particular gene varies from one individual to the next.
… Copy Number Variation (CNV) … A copy number variation (CNV) is when the number of copies of a particular … individual to the next. … Chromosomes, Disease, DNA, Gene Variation … Copy number variation (abbreviated CNV) refers to …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… The Big Picture   Genomic variation reflects the differences in a person’s DNA compared … comprehensive framework that aims to account for genomic variation across human populations, thereby reducing biases … goal is to have sufficient knowledge about genomic variation in all human populations, bringing equity in the …
News Release
Grants are awarded to GTEx project to explore human gene expression and regulation in different tissues, and how genomic variation modulates that expression.
… regulated in different tissues, and the role that genomic variation plays in modulating that expression. … An Atlas of … Joshua Michael Akey, Ph.D. Somatic mutations - genetic mutations that are not inherited, but instead occur … in cancer. But how these mutations contribute to genetic variability and disease susceptibility is not well …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… of the human genome that are associated with skin color variation in some African populations, opening new avenues … co-author of the study and senior investigator in the Genetic Disease Research Branch at NIH's National Human … Ph.D. , co-author and staff scientist also in NHGRI's Genetic Disease Research Branch. Read the Study Loci …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… Center Multiscale functional characterization of genomic variation in human developmental disorders HG011996 Hyejung … Brigham and Women's Hospital Predicting the impact of genetic variants, genes and pathways on human disease … modeling of the functional and phenotypic impacts of genetic variants HG012064 Anshul Kundaje Stanford University …
Talking Glossary
Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors.
… of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors. … of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors. … of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors. …