Using Online Mendelian Inheritance in Man in low- and middle-income countries

Nara Lygia de Macena Sobreira; Gabriela M. Repetto; Samia A. Temtamy; Ana Beatriz Alvarez Perez

doi:10.1002/ajmg.a.62467

Using Online Mendelian Inheritance in Man in low- and middle-income countries

Nara Lygia de Macena Sobreira, Gabriela M. Repetto, Samia A. Temtamy, Ana Beatriz Alvarez Perez

School of Medicine

Research output: Contribution to journal › Comment/debate › peer-review

Abstract

Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders, has been used in the low- and middle-income countries largely as a tool for improving clinical care, teaching genetics and genomics, and for clinical and research analysis of next-generation sequencing. By facilitating free access to curated, updated, and comprehensive information in genetics and genomics, OMIM has led to better clinical care and research advancement in countries where clinicians and researchers in private or public hospitals and universities cannot afford to pay for other resources including journal subscriptions.

Original language	English (US)
Pages (from-to)	3284-3286
Number of pages	3
Journal	American Journal of Medical Genetics, Part A
Volume	185
Issue number	11
DOIs	https://doi.org/10.1002/ajmg.a.62467
State	Published - Nov 2021

Keywords

OMIM
diagnosis
education
low-income countries
middle-income countries
rare diseases

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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10.1002/ajmg.a.62467

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title = "Using Online Mendelian Inheritance in Man in low- and middle-income countries",

abstract = "Online Mendelian Inheritance in Man (OMIM{\textregistered}), an online catalog of human genes and genetic disorders, has been used in the low- and middle-income countries largely as a tool for improving clinical care, teaching genetics and genomics, and for clinical and research analysis of next-generation sequencing. By facilitating free access to curated, updated, and comprehensive information in genetics and genomics, OMIM has led to better clinical care and research advancement in countries where clinicians and researchers in private or public hospitals and universities cannot afford to pay for other resources including journal subscriptions.",

keywords = "OMIM, diagnosis, education, low-income countries, middle-income countries, rare diseases",

author = "{de Macena Sobreira}, {Nara Lygia} and Repetto, {Gabriela M.} and Temtamy, {Samia A.} and {Alvarez Perez}, {Ana Beatriz}",

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AU - de Macena Sobreira, Nara Lygia

AU - Repetto, Gabriela M.

AU - Temtamy, Samia A.

AU - Alvarez Perez, Ana Beatriz

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AB - Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders, has been used in the low- and middle-income countries largely as a tool for improving clinical care, teaching genetics and genomics, and for clinical and research analysis of next-generation sequencing. By facilitating free access to curated, updated, and comprehensive information in genetics and genomics, OMIM has led to better clinical care and research advancement in countries where clinicians and researchers in private or public hospitals and universities cannot afford to pay for other resources including journal subscriptions.

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KW - education

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KW - middle-income countries

KW - rare diseases

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Using Online Mendelian Inheritance in Man in low- and middle-income countries

Abstract

Keywords

ASJC Scopus subject areas

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