A new face and new challenges for Online Mendelian Inheritance in Man (OMIM
TLDR
The content of OMIM, the process and intent of disease classification and nosology, and anticipated improvements in the new Website are focused on.Abstract:
OMIM's task of cataloging the association between human phenotypes and their causative genes (the Morbid Map of the Genome) and classifying and naming newly recognized disorders is growing rapidly. Establishing the relationship between genotype and phenotype has become increasingly complex. New technologies such as genome-wide association studies (GWAS) and array comparative genomic hybridization (aCGH) define “risk alleles” that are inherently prone to substantial interpretation and modification. In addition, whole exome and genome sequencing are expected to result in many reports of new mendelian disorders and their causative genes. In preparation for the onslaught of new information, we have launched a new Website to allow a more comprehensive and structured view of the contents of OMIM and to improve interconnectivity with complementary clinical and basic science genetics resources. This article focuses on the content of OMIM, the process and intent of disease classification and nosology, and anticipated improvements in our new Website (http://www.omim.org). Hum Mutat 32:1–4, 2011. © 2011 Wiley-Liss, Inc.read more
Citations
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ClinVar: public archive of relationships among sequence variation and human phenotype
Melissa J. Landrum,Jennifer M. Lee,George R. Riley,Wonhee Jang,Wendy S. Rubinstein,Deanna M. Church,Donna Maglott +6 more
TL;DR: To facilitate evaluation of the medical importance of each variant, ClinVar aggregates submissions with the same variation/phenotype combination, adds value from other NCBI databases, assigns a distinct accession of the format RCV000000000.0 and reports if there are conflicting clinical interpretations.
Journal ArticleDOI
Activities at the Universal Protein Resource (UniProt)
Rolf Apweiler,Alex Bateman,Maria Jesus Martin,Claire O'Donovan,Michele Magrane,Yasmin Alam-Faruque,Emanuele Alpi,Ricardo Antunes,J Arganiska,EB Casanova,Benoit Bely,M Bingley,Carlos Bonilla,Ramona Britto,Borisas Bursteinas,WM Chan,Gayatri Chavali,Elena Cibrian-Uhalte,A Da Silva,M De Giorgi,Tunca Doğan,F. Fazzini,Paul Gane,Leyla Jael Garcia Castro,Penelope Garmiri,Emma Hatton-Ellis,Reija Hieta,Rachael P. Huntley,Duncan Legge,W Liu,Jie Luo,Alistair MacDougall,Prudence Mutowo,Andrew Nightingale,Sandra Orchard,Klemens Pichler,Diego Poggioli,Sangya Pundir,L Pureza,Guoying Qi,S. Rosanoff,Rabie Saidi,Tony Sawford,Aleksandra Shypitsyna,Edd Turner,Volynkin,Tony Wardell,Xavier Watkins,Hermann Zellner,Matthew Corbett,M Donnelly,P van Rensburg,Mickael Goujon,Hamish McWilliam,Rodrigo Lopez,Ioannis Xenarios,Lydie Bougueleret,Alan Bridge,Sylvain Poux,Nicole Redaschi,Lucila Aimo,Andrea H. Auchincloss,Kristian B. Axelsen,Parit Bansal,Delphine Baratin,P-A Binz,M. C. Blatter,Brigitte Boeckmann,Jerven Bolleman,Emmanuel Boutet,Lionel Breuza,C Casal-Casas,E de Castro,Lorenzo Cerutti,Elisabeth Coudert,Béatrice A. Cuche,M Doche,Dolnide Dornevil,Séverine Duvaud,Anne Estreicher,L Famiglietti,M Feuermann,Elisabeth Gasteiger,Sebastien Gehant,Gerritsen,Arnaud Gos,Nadine Gruaz-Gumowski,Ursula Hinz,Chantal Hulo,J. James,Florence Jungo,Guillaume Keller,Lara,P Lemercier,J Lew,Damien Lieberherr,Thierry Lombardot,Xavier D. Martin,Patrick Masson,Anne Morgat,Teresa Batista Neto,Salvo Paesano,Ivo Pedruzzi,Sandrine Pilbout,Monica Pozzato,Manuela Pruess,Catherine Rivoire,Bernd Roechert,Maria Victoria Schneider,Christian J. A. Sigrist,K Sonesson,S Staehli,Andre Stutz,Shyamala Sundaram,Michael Tognolli,Laure Verbregue,A-L Veuthey,Cathy H. Wu,Cecilia N. Arighi,Leslie Arminski,Chuming Chen,Yongxing Chen,John S. Garavelli,Hongzhan Huang,Kati Laiho,Peter B. McGarvey,Darren A. Natale,Baris E. Suzek,C. R. Vinayaka,Qinghua Wang,Yuqi Wang,L-S Yeh,Yerramalla,Jie Zhang +133 more
TL;DR: The mission of the Universal Protein Resource (UniProt) is to provide the scientific community with a comprehensive, high-quality and freely accessible resource of protein sequences and functional annotation.
Journal ArticleDOI
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.
TL;DR: 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.
Journal ArticleDOI
Disease Ontology: a backbone for disease semantic integration
Lynn M. Schriml,Cesar Arze,Suvarna Nadendla,Yu-Wei Wayne Chang,Mark J. Mazaitis,Victor Felix,Gang Feng,Warren A. Kibbe +7 more
TL;DR: The next iteration of the DO web browser will integrate DO's extended relations and logical definition representation along with these biomedical resource cross-mappings.
Journal ArticleDOI
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Sebastian Köhler,Sandra C. Doelken,Christopher J. Mungall,Sebastian Bauer,Helen V. Firth,Helen V. Firth,Isabelle Bailleul-Forestier,Graeme C.M. Black,Danielle L. Brown,Michael Brudno,Jennifer Campbell,Jennifer Campbell,David R. FitzPatrick,Janan T. Eppig,Andrew P. Jackson,Kathleen Freson,Marta Girdea,Ingo Helbig,Jane A. Hurst,Johanna A. Jähn,Laird G. Jackson,Anne M. Kelly,David H. Ledbetter,Sahar Mansour,Christa Lese Martin,Celia Moss,Andrew D Mumford,Willem H. Ouwehand,Willem H. Ouwehand,Soo Mi Park,Erin Rooney Riggs,Richard H. Scott,Sanjay M. Sisodiya,Steven Van Vooren,Ronald J. Wapner,Andrew O.M. Wilkie,Caroline F. Wright,Anneke T. Vulto-van Silfhout,Nicole de Leeuw,Bert B.A. de Vries,Nicole L. Washingthon,Cynthia L. Smith,Monte Westerfield,Paul N. Schofield,Barbara J. Ruef,Georgios V. Gkoutos,Melissa A. Haendel,Damian Smedley,Suzanna E. Lewis,Peter N. Robinson,Peter N. Robinson +50 more
TL;DR: The updated HPO database is described, which provides annotations of 7,278 human hereditary syndromes listed in OMIM, Orphanet and DECIPHER to classes of the HPO, allowing integration of existing datasets and interoperability with multiple biomedical resources.
References
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Journal ArticleDOI
The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
Peter N. Robinson,Sebastian Köhler,Sebastian Bauer,Dominik Seelow,Denise Horn,Stefan Mundlos +5 more
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Journal ArticleDOI
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