Results 101 to 110 of about 15,235 (121)
Current Protocols in Human Genetics, 2012 AbstractOnline Mendelian Inheritance in Man (OMIM) is a comprehensive compendium of information on human genes and genetic disorders, with a particular emphasis on the interplay between observed phenotypes and underlying genotypes. This unit focuses on the basic methodology for formulating OMIM searches and illustrates the types of information that can
Andreas D. Baxevanis
semanticscholar +6 more sources
Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders
Clinical Genetics, 2000 In this review, we summarize the current genetic information on human developmental disorders found in Online Mendelian Inheritance in Man (OMIM). The OMIM catalogues human phenotypes and genotypes and relevant mouse models. Among the more than 11 005 genetic disorders and loci, we found at least 1231 human conditions with known gene mutations.
SA Boyadjiev, Ethylin Wang Jabs
semanticscholar +4 more sources
Current Protocols in Bioinformatics, 2009 AbstractOnline Mendelian Inheritance in Man (OMIM) is a comprehensive compendium of information on human genes and genetic disorders, with a particular emphasis on the interplay between observed phenotypes and underlying genotypes. This unit focuses on the basic methodology for formulating OMIM searches and illustrates the types of information that can
Bhavesh Borate, Andreas D. Baxevanis
semanticscholar +4 more sources
OMIM: Online Mendelian Inheritance in Man
, 2006 Alan F. Scott +3 more
semanticscholar +3 more sources
, 2004 Obi L. Griffith, Malachi Griffith
openalex +2 more sources
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Using Online Mendelian Inheritance in Man in low‐ and middle‐income countries
American Journal of Medical Genetics. Part A, 2021Online 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
N. L. de Macena Sobreira +3 more
semanticscholar +1 more source
Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout
Current Protocols, 2022Structural variation in genomes, such as copy number variants (CNVs), is under scrutiny for its contribution to phenotypic expression and evolution. Regions of homozygosity (ROH) are ripe for phenotype‐gene discovery.
Carolyn D. Applegate +3 more
semanticscholar +1 more source
The genes of OMIM: A legacy of Victor McKusick
American Journal of Medical Genetics. Part A, 2021Victor McKusick is largely remembered as a clinician and cataloger of inherited disorders; however, those of us who worked with him know that he was perhaps most proud of this role in the effort to map the human genome.
A. F. Scott, J. Amberger
semanticscholar +1 more source
Disease Gene Prediction by Integrating PPI Networks, Clinical RNA-Seq Data and OMIM Data
IEEE/ACM Transactions on Computational Biology & Bioinformatics, 2019Disease gene prediction is a challenging task that has a variety of applications such as early diagnosis and drug development. The existing machine learning methods suffer from the imbalanced sample issue because the number of known disease genes ...
Ping Luo +3 more
semanticscholar +1 more source