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Medical genetics

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gene therapy
genetic modification of a patient's cells to produce a therapeutic effect
consanguinity
upright=1.3|right|thumb|One legal definition of degrees of consanguinity. The number next to each box in the table indicates the degree of relationship relative to the given person.
medical genetics
medical specialty that involves the diagnosis and management of hereditary disorders
genetic testing
medical testing related to genetic disorders
metabolic disease
disease that involving errors in metabolic processes of building or degradation of molecules
genetic counseling
advising those affected by or at risk of genetic disorders
preimplantation genetic diagnosis
genetic profiling of embryos prior to implantation
inherited metabolic disorder
class of disease including endocrine diseases, nutritional diseases and metabolic diseases
Ensembl genome database project
gene sequence database
whole genome sequencing
sequencing all the DNA of an individual at once
penetrance
thumb|Illustration of the degree of penetrance Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (genotype) that also expresses an associated trait (phenotype). In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation that exhibit clinical symptoms among all individuals with such mutation. For example: If a mutation in the gene responsible for a particular autosomal dominant disorder has 95% penetrance, then 95% of those with the mutation will go on to develop the disease, show
immunogenetics
Immunogenetics or immungenetics is the branch of Medical Immunology and Medical Genetics that explores the relationship between the immune system and genetics.
consanguine marriage
marriage between relatives
nutritional genomics
science of the Effects of Nutrition on Genes
genetic screen
biological lab technique
molecular diagnostics
subfield of biotechnology
toxicogenomics
Toxicogenomics is a subdiscipline of pharmacology that deals with the collection, interpretation, and storage of information about gene and protein activity within a particular cell or tissue of an organism in response to exposure to toxic substances. Toxicogenomics combines toxicology with genomics or other high-throughput molecular profiling technologies such as transcriptomics, proteomics and metabolomics. Toxicogenomics endeavors to elucidate the molecular mechanisms evolved in the expression of toxicity, and to derive molecular expression patterns (i.e., molecular biomarkers) that predict
oncogenomics
Oncogenomics is a sub-field of genomics that characterizes cancer-associated genes. It focuses on genomic, epigenomic and transcript alterations in cancer.
heritability of autism
The heritability of autism
heritability of IQ
percent of variation in IQ scores in a given population associated with genetic variation
Double minute
fragments of extrachromosomal DNA in human tumors
dysmorphism
abnormal difference in body structure
Paternal age effect
health effects of an older father at conception
Exact Sciences
American company in Madison, United States
Genetic Information Nondiscrimination Act of 2008
act of Congress in the United States
savior sibling
a child who is conceived in order to provide an organ or cell transplant to a sibling that is affected with a disease
medical genetics of Jews
medical genetics
Myriad Genetics
American biotechnology company
GENCODE
GENCODE is a scientific project in genome research and part of the ENCODE (ENCyclopedia Of DNA Elements) scale-up project.