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Current Protocols in Human Genetics, ISSN 1934-8266, 2016, Volume 2016, pp. 7.13.1 - 7.13.19
Journal Article
Human Mutation, ISSN 1059-7794, 08/2019, Volume 40, Issue 8, pp. 1009 - 1009
Journal Article
Human Mutation, ISSN 1059-7794, 06/2018, Volume 39, Issue 6, pp. 755 - 755
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2017, Volume 1492, pp. 243 - 251
DNA sequencing is usually performed to determine the sequence of a region of interest or even the entire genome of an individual. After sequencing, the... 
Variant | RNA | DNA | Nomenclature | Database | Mutation | Protein | Standards | Terminology as Topic | Software | Sequence Analysis, DNA - methods | Humans
Journal Article
Human Mutation, ISSN 1059-7794, 01/2000, Volume 15, Issue 1, pp. 7 - 12
Consistent gene mutation nomenclature is essential for efficient and accurate reporting, testing, and curation of the growing number of disease mutations and... 
nomenclature | MDI | complex mutation | mutation detection | mutation database | Mutation database | Complex mutation | Mutation detection | Nomenclature | GENETICS & HEREDITY | HUMAN GENE-MUTATIONS | Proteins - genetics | Codon | Exons | Base Sequence | DNA | Humans | Terminology as Topic | Mutation | Genome, Human | Polymorphism, Genetic | RNA - genetics
Journal Article
Human Mutation, ISSN 1059-7794, 10/2019, Volume 40, Issue 10, pp. 1630 - 1633
Variations in the DMD gene that affect dystrophin production underlie both the severe Duchenne and the milder Becker muscular dystrophies (DMD and BMD,... 
Becker muscular dystrophy | deletion | Duchenne muscular dystrophy | duplication | Phenotypes | Exons | Duchenne's muscular dystrophy | Genetic analysis | Dystrophy | Dystrophin | Muscular dystrophy
Journal Article
Current protocols in human genetics, 07/2016, Volume 90, p. 7.13.1
Consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome, in particular in DNA... 
Molecular Sequence Annotation - standards | Humans | Terminology as Topic | Molecular Sequence Annotation - methods | Genome, Human - genetics | RNA - genetics | DNA - genetics | Genetic Variation | Proteins - genetics | Societies, Scientific | Software | Internet | Mutation
Journal Article
Human Mutation, ISSN 1059-7794, 06/2009, Volume 30, Issue 6, pp. 860 - 866
Transition of the double‐stranded DNA molecule to its two single strands, DNA denaturation or melting, has been used for many years to study DNA structure and... 
melt curve analysis | HRM | mutation detection | methodology | HRMA | Mutation detection | Methodology | Melt curve analysis | TUBE | GENE | COPY-NUMBER | GENETICS & HEREDITY | CURVE ANALYSIS | PCR | Nucleic Acid Denaturation | DNA Methylation | Humans | Polymorphism, Single Nucleotide - genetics | Mosaicism | Gene Dosage | DNA Mutational Analysis - methods
Journal Article
Human Mutation, ISSN 1059-7794, 05/2011, Volume 32, Issue 5, pp. 557 - 563
Locus‐Specific DataBases (LSDBs) store information on gene sequence variation associated with human phenotypes and are frequently used as a reference by... 
PHP | database | open source | LOVD | LSDB | MySQL | Database | Open source | DEPLOYMENT | NOMENCLATURE | RECOMMENDATIONS | GUIDELINES | GENETICS & HEREDITY | MUTATION DATABASES | Genetic Variation | Databases, Genetic | Data Collection | Software | Internet | Humans
Journal Article
by Thompson, Bryony A and Spurdle, Amanda B and Plazzer, John-Paul and Greenblatt, Marc S and Akagi, Kiwamu and Al-Mulla, Fahd and Bapat, Bharati and Bernstein, Inge and Capellá, Gabriel and den Dunnen, Johan T and du Sart, Desiree and Fabre, Aurelie and Farrell, Michael P and Farrington, Susan M and Frayling, Ian M and Frebourg, Thierry and Goldgar, David E and Heinen, Christopher D and Holinski-Feder, Elke and Kohonen-Corish, Maija and Robinson, Kristina Lagerstedt and Leung, Suet Yi and Martins, Alexana and Moller, Pal and Morak, Monika and Nystrom, Minna and Peltomaki, Paivi and Pineda, Marta and Qi, Ming and Ramesar, Rajkumar and Rasmussen, Lene Juel and Royer-Pokora, Brigitte and Scott, Rodney J and Sijmons, Rolf and Tavtigian, Sean V and Tops, Carli M and Weber, Thomas and Wijnen, Juul and Woods, Michael O and Macrae, Finlay and Genuardi, Maurizio and Castillejo, Adela and Sexton, Aienne and Chan, Anthony K. W and Viel, Alessana and Blanco, Amie and French, Amy and Laner, Aneas and Wagner, Anja and van den Ouweland, Ans and Mensenkamp, Arjen and Payá, Artemio and Betz, Beate and Redeker, Bert and Smith, Betsy and Espenschied, Carin and Cummings, Carole and Engel, Christoph and Fornes, Claudia and Valenzuela, Cristian and Alenda, Cristina and Buchanan, Daniel and Barana, Daniela and Konstantinova, Darina and Cairns, Dianne and Glaser, Elizabeth and Silva, Felipe and Lalloo, Fiona and Crucianelli, Francesca and Hogervorst, Frans and Casey, Graham and Tomlinson, Ian and Blanco, Ignacio and Villar, Isabel López and Garcia-Planells, Javier and Bigler, Jeanette and Shia, Jinru and Martinez-Lopez, Joaquin and Gille, Johan J. P and Hopper, John and Potter, John and Soto, José Luis and Kantelinen, Jukka and Ellis, Kate and Mann, Kirsty and Varesco, Liliana and Zhang, Liying and Le Marchand, Loic and Marafie, Makia J and Nordling, Margareta and Tibiletti, Maria Grazia and Kahan, Mariano Ariel and Ligtenberg, Marjolijn and Clendenning, Mark and Jenkins, Mark and Speevak, Marsha and Digweed, Martin and Kloor, Matthias and Hitchins, Megan and Myers, Megan and ... and InSiGHT and on behalf of InSiGHT and Sahlgrenska akademin and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 2, pp. 107 - 115
Journal Article
by Francioli, Laurent C and Menelaou, Anoniki and Pulit, Sara L and van Dijk, Freerk and Palamara, Pier Francesco and Elbers, Clara C and Neerincx, Pieter B. T and Ye, Kai and Guryev, Victor and Kloosterman, Wigard P and Deelen, Patrick and Abdellaoui, Abdel and van Leeuwen, Elisabeth M and van Oven, Mannis and Vermaat, Martijn and Li, Mingkun and Laros, Jeroen F. J and Karssen, Lennart C and Kanterakis, Alexanos and Amin, Najaf and Hottenga, Jouke Jan and Lameijer, Eric-Wubbo and Kattenberg, Mathijs and Dijkstra, Martijn and Byelas, Heorhiy and van Setten, Jessica and van Schaik, Barbera D. C and Bot, Jan and Nijman, Isaäc J and Renkens, Ivo and Marschall, Tobias and Schönhuth, Alexander and Hehir-Kwa, Jayne Y and Handsaker, Robert E and Polak, Paz and Sohail, Mashaal and Vuzman, Dana and Hormozdiari, Fereydoun and van Enckevort, David and Mei, Hailiang and Koval, Vyacheslav and Moed, Matthijs H and van der Velde, K. Joeri and Rivadeneira, Fernando and Estrada, Karol and Medina-Gomez, Carolina and Isaacs, Aaron and McCarroll, Steven A and Beekman, Marian and de Craen, Anton J. M and Suchiman, H. Eka D and Hofman, Albert and Oostra, Ben and Uitterlinden, Ané G and Willemsen, Gonneke and Platteel, Mathieu and Veldink, Jan H and van den Berg, Leonard H and Pitts, Steven J and Potluri, Shobha and Sundar, Purnima and Cox, David R and Sunyaev, Shamil R and den Dunnen, Johan T and Stoneking, Mark and de Knijff, Peter and Kayser, Manfred and Li, Qibin and Li, Yingrui and Du, Yuanping and Chen, Ruoyan and Cao, Hongzhi and Li, Ning and Cao, Sujie and Wang, Jun and Bovenberg, Jasper A and Pe'er, Itsik and Slagboom, P. Eline and van Duijn, Cornelia M and Boomsma, Dorret I and van Ommen, Gert-Jan B and de Bakker, Paul I. W and Swertz, Morris A and Wijmenga, Cisca and LifeLines Cohort Study and Genome Netherlands Consortium and Genome of the Netherlands Consortium and The Genome of the Netherlands Consortium
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 8, pp. 818 - 825
Journal Article
Human Mutation, ISSN 1059-7794, 07/2015, Volume 36, Issue 7, pp. 657 - 659
Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 12, pp. 1370 - 1374
Journal Article