Category Archives: NSGC
MedGen: Your search engine for human medical genetics
MedGen is a free, comprehensive resource for one-stop access to essential information on phenotypic health topics related to medical genetics as collected from established high-quality sources. It integrates terminology from multiple primary ontologies (or nomenclatures) to facilitate standardization and more … Continue reading
Posted by in ClinVar, GeneReviews, Genetic Testing Registry, GTR, MedGen, medical genetics, NSGC, pharmacogenetics, What's New
NCBI presents resources for genetic counselors at NSGC 2018
Today, November 8, National Society of Genetic Counselors (NSGC) celebrates the second annual Genetic Counselor Awareness Day. At NCBI, we’ve been working hard to provide and improve resources, such as MedGen, Genetic Testing Registry (GTR), ClinVar, and Medical Genetics Summaries … Continue reading
Posted by in ClinVar, Genetic Testing Registry, MedGen, Medical Genetic Summaries, NSGC, What's New
Genetic Testing For All: Is It Eugenics?
In recent weeks, there’s been talk of three types of genetic testing transitioning from targeted populations to the general public: carrier screens for recessive diseases, tests for BRCA mutations, and non-invasive prenatal testing (NIPT) to spot extra chromosomes in fetuses …
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