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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Educational Resources
Congenital conditions are those present from birth.
… conditions are those present from birth. … Birth Defects, Genetic Mutation, Newborn Screening, Genetics, Pregnancy … …
Educational Resources
A proband is an individual being studied or reported on.
… on. … Birth Defect, Inherited, Carrier, Carrier Screening, Genetic Testing, Genetic Counseling, Pedigree, Family History … A proband is an individual who is affected by a genetic condition or who is concerned they are at risk. …
Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… the risk to newborns that the identification of specific genetic variants , such as a predisposition to a disease, … the presence of disease biomarkers. … Newborn Screening, Genetic Testing, Healthcare, Genetic Material, Gene Mutation, Genes … Newborn screening …
Educational Resources
A nonsense mutation is the substitution of a single base pair that leads to the appearance of a stop codon where previously there was a codon specifying an amino acid.
… acid. … Nonsense Mutation, Missense Mutation, Base Pair, Genetic Code, Genetic Mutation … A nonsense mutation occurs in DNA when a …
Educational Resources
Evolution is the process by which organisms change over time.
… is the process by which organisms change over time. … Genetic Mutation, Genetic Variation, Gene Expression, Charles Darwin, The …
Educational Resources
Dominant refers to the relationship between two versions of a gene.
… Recessive, Alleles, Family Health History, Genetics, Genetic Variation, Mutation, Ancestry … Dominant refers to …
Educational Resources
Population genomics is the application of genomic technologies to understand populations of organisms.
… to understand populations of organisms. … Gene, Genome, Genetic Variation, Allele, Founder Effect, Genetic Drift, HapMap, Human Genome Project … Population …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
… mostly males. … Hereditary, X Chromosome, Y Chromosome, Genetic Disorder, Mutation … Fragile X syndrome is a genetic condition that affects a person’s development, in …
Educational Resources
Gregor Mendel was an Austrian monk who in the 19th century worked out the basic laws of inheritance, even before the term "gene" had been coined.
Educational Resources
Mapping is the process of making a representative diagram cataloging the genes and other features of a chromosome and showing their relative locations.
… of a chromosome and showing their relative locations. … Genetic Mapping, Recombinant DNA, Genes, Chromosome … Mapping … maps based on physical distances between landmarks, and genetic mapping, which established maps based on the …