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Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… the process that replicates and then divides up the pairs of chromosomes during cell division, resulting in the inheritance of an extra full or partial copy of chromosome 21 from a parent. This extra chromosomal DNA …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system. … Tay-Sachs disease (TSD) is a fatal … in children, that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is … syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is … 500-1,000 newborn males. The additional sex chromosome results from a random error during the formation of the egg …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce … of Southeast Asian, Chinese and Filipino ancestry, results in fetal or newborn death. A child who inherits two …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… Frequently Asked Questions  Will I receive the results of my evaluations? Yes. The results of your evaluations will be shared with you as soon as they …
News Release
The TCGA network describes uterine and bile duct cancer.
… and NHGRI, has greatly improved our understanding of the molecular signatures underlying different cancers - … unique from each other. … The Molecular Characteristics of Breast Cancer The TCGA data, more than two petabytes in … … Related Content … The Cancer Genome Atlas publishes results for bile duct, uterine and breast cancer … ​The TCGA …
Educational Resources
Gene environment interaction is an influence on the expression of a trait that results from the interplay between genes and the environment.
… environment interaction is an influence on the expression of a trait that results from the interplay between genes and the environment. … DNA … Gene–environment interaction refers to the interplay of genes (and, more broadly, genome function) and the …
Educational Resources
A missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein.
… Missense Mutation … A missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein. … … DNA Sequence … A missense mutation is a DNA change that results in different amino acids being encoded at a …
Fact Sheet
Several regulations and policies stipulate the information that must be given to research participants prior to their enrolling in a study.
… regulations may not require informed consent for all kinds of genomics research (e.g., if the samples or data are de-identified); however, there may be other policy or ethical reasons for conveying that such research … health information, including individual research results.  It is ethically appropriate to continue to respect …
Educational Resources
Restriction fragment length polymorphism (RFLP) is a type of polymorphism that results from variation in the DNA sequence recognized by restriction enzymes.
… Restriction fragment length polymorphism (RFLP) is a type of polymorphism that results from variation in the DNA sequence recognized by … markers, which are often used to follow the inheritance of DNA through families. … Restriction fragment length …