The Experts below are selected from a list of 29304 Experts worldwide ranked by ideXlab platform
Ada Hamosh - One of the best experts on this subject based on the ideXlab platform.
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Current Protocols in Bioinformatics - Searching online Mendelian Inheritance in man (OMIM): A knowledgebase of human genes and genetic phenotypes
Current protocols in human genetics, 2017Co-Authors: Joanna S Amberger, Ada HamoshAbstract:Online Mendelian Inheritance in Man (OMIM) at OMIM.org is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them. This unit provides an overview of the types of information in OMIM and optimal strategies for searching and retrieving the information. OMIM.org has links to many related and complementary databases, providing easy access to more information on a topic. The relationship between genes and genetic disorders is highlighted in this unit. The basic protocol explains searching OMIM both from a gene perspective and a clinical features perspective. Two alternate protocols provide strategies for viewing gene-phenotype relationships: a gene map table and Quick View or Side-by-Side format for clinical features. OMIM.org is updated nightly, and the MIMmatch service, described in the support protocol, provides a convenient way to follow updates to entries, gene-phenotype relationships, and collaborate with other researchers. © 2017 by John Wiley & Sons, Inc. Keywords: disease gene discovery; human genetic disorders; molecular genetics; OMIM
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searching online Mendelian Inheritance in man omim a knowledgebase of human genes and genetic phenotypes
Current protocols in human genetics, 2017Co-Authors: Joanna S Amberger, Ada HamoshAbstract:Online Mendelian Inheritance in Man (OMIM) at OMIM.org is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them. This unit provides an overview of the types of information in OMIM and optimal strategies for searching and retrieving the information. OMIM.org has links to many related and complementary databases, providing easy access to more information on a topic. The relationship between genes and genetic disorders is highlighted in this unit. The basic protocol explains searching OMIM both from a gene perspective and a clinical features perspective. Two alternate protocols provide strategies for viewing gene-phenotype relationships: a gene map table and Quick View or Side-by-Side format for clinical features. OMIM.org is updated nightly, and the MIMmatch service, described in the support protocol, provides a convenient way to follow updates to entries, gene-phenotype relationships, and collaborate with other researchers. © 2017 by John Wiley & Sons, Inc. Keywords: disease gene discovery; human genetic disorders; molecular genetics; OMIM
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OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.
Nucleic acids research, 2014Co-Authors: Joanna S Amberger, Carol A Bocchini, Alan F Scott, François Schiettecatte, Ada HamoshAbstract:Online Mendelian Inheritance in Man, OMIM(®), is a comprehensive, authoritative and timely research resource of curated descriptions of human genes and phenotypes and the relationships between them. The new official website for OMIM, OMIM.org (http://omim.org), was launched in January 2011. OMIM is based on the published peer-reviewed biomedical literature and is used by overlapping and diverse communities of clinicians, molecular biologists and genome scientists, as well as by students and teachers of these disciplines. Genes and phenotypes are described in separate entries and are given unique, stable six-digit identifiers (MIM numbers). OMIM entries have a structured free-text format that provides the flexibility necessary to describe the complex and nuanced relationships between genes and genetic phenotypes in an efficient manner. OMIM also has a derivative table of genes and genetic phenotypes, the Morbid Map. OMIM.org has enhanced search capabilities such as genome coordinate searching and thesaurus-enhanced search term options. Phenotypic series have been created to facilitate viewing genetic heterogeneity of phenotypes. Clinical synopsis features are enhanced with UMLS, Human Phenotype Ontology and Elements of Morphology terms and image links. All OMIM data are available for FTP download and through an API. MIMmatch is a novel outreach feature to disseminate updates and encourage collaboration.
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mckusick s online Mendelian Inheritance in man omim
Nucleic Acids Research, 2009Co-Authors: Joanna S Amberger, Carol A Bocchini, Alan F Scott, Ada HamoshAbstract:: McKusick's Online Mendelian Inheritance in Man (OMIM; http://www.ncbi.nlm.nih.gov/omim), a knowledgebase of human genes and phenotypes, was originally published as a book, Mendelian Inheritance in Man, in 1966. The content of OMIM is derived exclusively from the published biomedical literature and is updated daily. It currently contains 18,961 full-text entries describing phenotypes and genes. To date, 2239 genes have mutations causing disease, and 3770 diseases have a molecular basis. Approximately 70 new entries are added and 700 entries are updated per month. OMIM is expanding content and organization in response to shifting biological paradigms and advancing biotechnology.
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online Mendelian Inheritance in man omim a knowledgebaseofhumangenesandgeneticdisorders
2005Co-Authors: Ada Hamosh, Joanna S Amberger, Carol A Bocchini, Alan F Scott, Victor A MckusickAbstract:Online Mendelian Inheritance in Man (OMIM TM )i s a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (http:// www.ncbi.nlm.nih.gov/omim/)isnowdistributedelectronically by the National Center for Biotechnology Information, where it is integrated with the Entrez suiteofdatabases.Derivedfrom thebiomedicalliterature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians aroundtheworld.EachOMIMentryhasafull-textsummary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, HUGO nomenclature, MapViewer, GeneTests, patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.
Cornelius F Boerkoel - One of the best experts on this subject based on the ideXlab platform.
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var md a tool to analyze whole exome genome variants in small human pedigrees with Mendelian Inheritance
Human Mutation, 2012Co-Authors: Murat Sincan, Dimitre R Simeonov, David H Adams, Thomas C Markello, Tyler Mark Pierson, Camilo Toro, William A Gahl, Cornelius F BoerkoelAbstract:The analysis of variants generated by exome sequencing (ES) of families with rare Mendelian diseases is a time-consuming, manual process that represents one barrier to applying the technology routinely. To address this issue, we have developed a software tool, VAR-MD (http://research.nhgri.nih.gov/software/var-md/), for analyzing the DNA sequence variants produced by human ES. VAR-MD generates a ranked list of variants using predicted pathogenicity, Mendelian Inheritance models, genotype quality, and population variant frequency data. VAR-MD was tested using two previously solved data sets and one unsolved data set. In the solved cases, the correct variant was listed at the top of VAR-MD's variant ranking. In the unsolved case, the correct variant was highly ranked, allowing for subsequent identification and validation. We conclude that VAR-MD has the potential to enhance mutation identification using family based, annotated next generation sequencing data. Moreover, we predict an incremental advancement in software performance as the reference databases, such as Single Nucleotide Polymorphism Database and Human Gene Mutation Database, continue to improve. Hum Mutat 33:593–598, 2012. © 2012 Wiley Periodicals, Inc.*
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VAR‐MD: A tool to analyze whole exome–genome variants in small human pedigrees with Mendelian Inheritance
Human Mutation, 2012Co-Authors: Murat Sincan, Dimitre R Simeonov, David H Adams, Thomas C Markello, Tyler Mark Pierson, Camilo Toro, William A Gahl, Cornelius F BoerkoelAbstract:The analysis of variants generated by exome sequencing (ES) of families with rare Mendelian diseases is a time-consuming, manual process that represents one barrier to applying the technology routinely. To address this issue, we have developed a software tool, VAR-MD (http://research.nhgri.nih.gov/software/var-md/), for analyzing the DNA sequence variants produced by human ES. VAR-MD generates a ranked list of variants using predicted pathogenicity, Mendelian Inheritance models, genotype quality, and population variant frequency data. VAR-MD was tested using two previously solved data sets and one unsolved data set. In the solved cases, the correct variant was listed at the top of VAR-MD's variant ranking. In the unsolved case, the correct variant was highly ranked, allowing for subsequent identification and validation. We conclude that VAR-MD has the potential to enhance mutation identification using family based, annotated next generation sequencing data. Moreover, we predict an incremental advancement in software performance as the reference databases, such as Single Nucleotide Polymorphism Database and Human Gene Mutation Database, continue to improve. Hum Mutat 33:593–598, 2012. © 2012 Wiley Periodicals, Inc.*
Tyler Mark Pierson - One of the best experts on this subject based on the ideXlab platform.
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var md a tool to analyze whole exome genome variants in small human pedigrees with Mendelian Inheritance
Human Mutation, 2012Co-Authors: Murat Sincan, Dimitre R Simeonov, David H Adams, Thomas C Markello, Tyler Mark Pierson, Camilo Toro, William A Gahl, Cornelius F BoerkoelAbstract:The analysis of variants generated by exome sequencing (ES) of families with rare Mendelian diseases is a time-consuming, manual process that represents one barrier to applying the technology routinely. To address this issue, we have developed a software tool, VAR-MD (http://research.nhgri.nih.gov/software/var-md/), for analyzing the DNA sequence variants produced by human ES. VAR-MD generates a ranked list of variants using predicted pathogenicity, Mendelian Inheritance models, genotype quality, and population variant frequency data. VAR-MD was tested using two previously solved data sets and one unsolved data set. In the solved cases, the correct variant was listed at the top of VAR-MD's variant ranking. In the unsolved case, the correct variant was highly ranked, allowing for subsequent identification and validation. We conclude that VAR-MD has the potential to enhance mutation identification using family based, annotated next generation sequencing data. Moreover, we predict an incremental advancement in software performance as the reference databases, such as Single Nucleotide Polymorphism Database and Human Gene Mutation Database, continue to improve. Hum Mutat 33:593–598, 2012. © 2012 Wiley Periodicals, Inc.*
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VAR‐MD: A tool to analyze whole exome–genome variants in small human pedigrees with Mendelian Inheritance
Human Mutation, 2012Co-Authors: Murat Sincan, Dimitre R Simeonov, David H Adams, Thomas C Markello, Tyler Mark Pierson, Camilo Toro, William A Gahl, Cornelius F BoerkoelAbstract:The analysis of variants generated by exome sequencing (ES) of families with rare Mendelian diseases is a time-consuming, manual process that represents one barrier to applying the technology routinely. To address this issue, we have developed a software tool, VAR-MD (http://research.nhgri.nih.gov/software/var-md/), for analyzing the DNA sequence variants produced by human ES. VAR-MD generates a ranked list of variants using predicted pathogenicity, Mendelian Inheritance models, genotype quality, and population variant frequency data. VAR-MD was tested using two previously solved data sets and one unsolved data set. In the solved cases, the correct variant was listed at the top of VAR-MD's variant ranking. In the unsolved case, the correct variant was highly ranked, allowing for subsequent identification and validation. We conclude that VAR-MD has the potential to enhance mutation identification using family based, annotated next generation sequencing data. Moreover, we predict an incremental advancement in software performance as the reference databases, such as Single Nucleotide Polymorphism Database and Human Gene Mutation Database, continue to improve. Hum Mutat 33:593–598, 2012. © 2012 Wiley Periodicals, Inc.*
Joanna S Amberger - One of the best experts on this subject based on the ideXlab platform.
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Current Protocols in Bioinformatics - Searching online Mendelian Inheritance in man (OMIM): A knowledgebase of human genes and genetic phenotypes
Current protocols in human genetics, 2017Co-Authors: Joanna S Amberger, Ada HamoshAbstract:Online Mendelian Inheritance in Man (OMIM) at OMIM.org is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them. This unit provides an overview of the types of information in OMIM and optimal strategies for searching and retrieving the information. OMIM.org has links to many related and complementary databases, providing easy access to more information on a topic. The relationship between genes and genetic disorders is highlighted in this unit. The basic protocol explains searching OMIM both from a gene perspective and a clinical features perspective. Two alternate protocols provide strategies for viewing gene-phenotype relationships: a gene map table and Quick View or Side-by-Side format for clinical features. OMIM.org is updated nightly, and the MIMmatch service, described in the support protocol, provides a convenient way to follow updates to entries, gene-phenotype relationships, and collaborate with other researchers. © 2017 by John Wiley & Sons, Inc. Keywords: disease gene discovery; human genetic disorders; molecular genetics; OMIM
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searching online Mendelian Inheritance in man omim a knowledgebase of human genes and genetic phenotypes
Current protocols in human genetics, 2017Co-Authors: Joanna S Amberger, Ada HamoshAbstract:Online Mendelian Inheritance in Man (OMIM) at OMIM.org is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them. This unit provides an overview of the types of information in OMIM and optimal strategies for searching and retrieving the information. OMIM.org has links to many related and complementary databases, providing easy access to more information on a topic. The relationship between genes and genetic disorders is highlighted in this unit. The basic protocol explains searching OMIM both from a gene perspective and a clinical features perspective. Two alternate protocols provide strategies for viewing gene-phenotype relationships: a gene map table and Quick View or Side-by-Side format for clinical features. OMIM.org is updated nightly, and the MIMmatch service, described in the support protocol, provides a convenient way to follow updates to entries, gene-phenotype relationships, and collaborate with other researchers. © 2017 by John Wiley & Sons, Inc. Keywords: disease gene discovery; human genetic disorders; molecular genetics; OMIM
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OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.
Nucleic acids research, 2014Co-Authors: Joanna S Amberger, Carol A Bocchini, Alan F Scott, François Schiettecatte, Ada HamoshAbstract:Online Mendelian Inheritance in Man, OMIM(®), is a comprehensive, authoritative and timely research resource of curated descriptions of human genes and phenotypes and the relationships between them. The new official website for OMIM, OMIM.org (http://omim.org), was launched in January 2011. OMIM is based on the published peer-reviewed biomedical literature and is used by overlapping and diverse communities of clinicians, molecular biologists and genome scientists, as well as by students and teachers of these disciplines. Genes and phenotypes are described in separate entries and are given unique, stable six-digit identifiers (MIM numbers). OMIM entries have a structured free-text format that provides the flexibility necessary to describe the complex and nuanced relationships between genes and genetic phenotypes in an efficient manner. OMIM also has a derivative table of genes and genetic phenotypes, the Morbid Map. OMIM.org has enhanced search capabilities such as genome coordinate searching and thesaurus-enhanced search term options. Phenotypic series have been created to facilitate viewing genetic heterogeneity of phenotypes. Clinical synopsis features are enhanced with UMLS, Human Phenotype Ontology and Elements of Morphology terms and image links. All OMIM data are available for FTP download and through an API. MIMmatch is a novel outreach feature to disseminate updates and encourage collaboration.
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mckusick s online Mendelian Inheritance in man omim
Nucleic Acids Research, 2009Co-Authors: Joanna S Amberger, Carol A Bocchini, Alan F Scott, Ada HamoshAbstract:: McKusick's Online Mendelian Inheritance in Man (OMIM; http://www.ncbi.nlm.nih.gov/omim), a knowledgebase of human genes and phenotypes, was originally published as a book, Mendelian Inheritance in Man, in 1966. The content of OMIM is derived exclusively from the published biomedical literature and is updated daily. It currently contains 18,961 full-text entries describing phenotypes and genes. To date, 2239 genes have mutations causing disease, and 3770 diseases have a molecular basis. Approximately 70 new entries are added and 700 entries are updated per month. OMIM is expanding content and organization in response to shifting biological paradigms and advancing biotechnology.
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online Mendelian Inheritance in man omim a knowledgebaseofhumangenesandgeneticdisorders
2005Co-Authors: Ada Hamosh, Joanna S Amberger, Carol A Bocchini, Alan F Scott, Victor A MckusickAbstract:Online Mendelian Inheritance in Man (OMIM TM )i s a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (http:// www.ncbi.nlm.nih.gov/omim/)isnowdistributedelectronically by the National Center for Biotechnology Information, where it is integrated with the Entrez suiteofdatabases.Derivedfrom thebiomedicalliterature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians aroundtheworld.EachOMIMentryhasafull-textsummary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, HUGO nomenclature, MapViewer, GeneTests, patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.
Victor A Mckusick - One of the best experts on this subject based on the ideXlab platform.
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Mendelian Inheritance in man and its online version omim
American Journal of Human Genetics, 2007Co-Authors: Victor A MckusickAbstract:Last year marked the 40th anniversary of the publication of the first print edition of Mendelian Inheritance in Man (MIM).1 This seems an appropriate juncture at which to review its origins, evolution, and present status, including and particularly those of its online version, OMIM (Online Mendelian Inheritance in Man). This is an opportunity, at the same time, to review in brief the rapid progress in an important part of medical genetics and genomics, as chronicled in MIM/OMIM over these 40 years, and to contemplate the future challenges of OMIM.
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online Mendelian Inheritance in man omim a knowledgebaseofhumangenesandgeneticdisorders
2005Co-Authors: Ada Hamosh, Joanna S Amberger, Carol A Bocchini, Alan F Scott, Victor A MckusickAbstract:Online Mendelian Inheritance in Man (OMIM TM )i s a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (http:// www.ncbi.nlm.nih.gov/omim/)isnowdistributedelectronically by the National Center for Biotechnology Information, where it is integrated with the Entrez suiteofdatabases.Derivedfrom thebiomedicalliterature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians aroundtheworld.EachOMIMentryhasafull-textsummary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, HUGO nomenclature, MapViewer, GeneTests, patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.
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online Mendelian Inheritance in man omim a knowledgebase of human genes and genetic disorders
Nucleic Acids Research, 2002Co-Authors: Ada Hamosh, Joanna S Amberger, Carol A Bocchini, Alan F Scott, Victor A MckusickAbstract:Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (http://www.ncbi.nlm.nih.gov/omim/) is now distributed electronically by the National Center for Biotechnology Information, where it is integrated with the Entrez suite of databases. Derived from the biomedical literature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians around the world. Each OMIM entry has a full-text summary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, HUGO nomenclature, MapViewer, GeneTests, patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.
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Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.
Nucleic acids research, 2002Co-Authors: Ada Hamosh, Joanna S Amberger, Carol A Bocchini, Alan F Scott, David Valle, Victor A MckusickAbstract:Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support research and education in human genomics and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (www.ncbi.nlm.nih.gov/omim) is now distributed electronically by the National Center for Biotechnology Information (NCBI), where it is integrated with the Entrez suite of databases. Derived from the biomedical literature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians around the world. Each OMIM entry has a full-text summary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, approved gene nomenclature, and the highly detailed mapviewer, as well as patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.
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online Mendelian Inheritance in man omim
Human Mutation, 2000Co-Authors: Ada Hamosh, Joanna S Amberger, Alan F Scott, David Valle, Victor A MckusickAbstract:Online Mendelian Inheritance In Man (OMIM) is a public database of bibliographic information about human genes and genetic disorders. Begun by Dr. Victor McKusick as the authoritative reference Mendelian Inheritance in Man, it is now distributed electronically by the National Center for Biotechnology Information (NCBI). Material in OMIM is derived from the biomedical literature and is written by Dr. McKusick and his colleagues at Johns Hopkins University and elsewhere. Each OMIM entry has a full text summary of a genetic phenotype and/or gene and has copious links to other genetic resources such as DNA and protein sequence, PubMed references, mutation databases, approved gene nomenclature, and more. In addition, NCBI's neighboring feature allows users to identify related articles from PubMed selected on the basis of key words in the OMIM entry. Through its many features, OMIM is increasingly becoming a major gateway for clinicians, students, and basic researchers to the ever-growing literature and resources of human genetics. Hum Mutat 15:57–61, 2000. © 2000 Wiley-Liss, Inc.
