OMIM.org: leveraging knowledge across phenotype–gene relationships

Abstract For over 50 years Mendelian Inheritance in Man has chronicled the collective knowledge of the field of medical genetics. It initially cataloged the known X-linked, autosomal recessive and autosomal dominant inherited disorders, but grew to be the primary repository of curated information on...

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Vydáno v:	Nucleic acids research Ročník 47; číslo D1; s. D1038 - D1043
Hlavní autoři:	Amberger, Joanna S, Bocchini, Carol A, Scott, Alan F, Hamosh, Ada
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	England Oxford University Press 08.01.2019
Témata:	Computational Biology - methods Database Issue Databases, Genetic Genetic Association Studies - methods Genetic Diseases, Inborn - genetics Genetic Predisposition to Disease - genetics Genetics, Medical - methods Genomics - methods Humans Information Storage and Retrieval - methods Inheritance Patterns - genetics Internet
ISSN:	0305-1048, 1362-4962, 1362-4962
On-line přístup:	Získat plný text
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