A(1)ATVar: A Relational Database of Human SERPINA1 Gene Variants Leading to alpha(1)-Antitrypsin Deficiency and Application of the VariVis Software
2009
Аутори
Zaimidou, Sophiavan Baal, Sjozef
Smith, Timothy D.
Mitropoulos, Konstantinos
Ljujić, Mila
Radojković, Dragica
Cotton, Richard G.
Patrinos, George P.
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
We have developed a relational database of human SERPINA1 gene mutations, leading to a,antitrypsin (AAT) deficiency, called A(1)ATVar, which can be accessed over the World Wide Web at www.goldenhelix.org/A1ATVar. Extensive information has been extracted from the literature and converted into a searchable database, including genotype information, clinical phenotype, allelic frequencies for the commonest AAT variant alleles, methods of detection, and references. Mutation summaries are automatically displayed and user-generated queries can be formulated based on fields in the database. A separate module, linked to the FINDbase database for frequencies of inherited disorders allows the user to access allele frequency information for the three most frequent AAT alleles, namely PiM, PiS, and PiZ. The available experimental protocols to detect AAT variant alleles at the protein and DNA levels have been archived in a searchable format. A visualization tool, called VariVis, has been implemented... to combine A(1)ATVar variant information with SERPINA1 sequence and annotation data. A direct data submission tool allows registered users to submit data on novel AAT variant alleles as well as experimental protocols to explore SERPINA1 genetic heterogeneity, via a password-protected interface. Database access is free of charge and there are no registration requirements for querying the data. The A(1)ATVar database is the only integrated database on the Internet offering summarized information on AAT allelic variants and could be useful not only for clinical diagnosis and research on AAT deficiency and the SERPINA1 gene, but could also serve as an example for an all-in-one solution for locus-specific database (LSDB) development and curation. Hum Mutat 30, 308-313, 2009.
Кључне речи:
visualization tool / SERPINA1 / relational database / populations / mutations / experimental protocols / alpha(1)-antitrypsin deficiency / AATИзвор:
Human Mutation, 2009, 30, 3, 308-313Издавач:
- Wiley-Blackwell, Malden
Финансирање / пројекти:
- Структурални елементи генома у модулацији фенотипа (RS-MESTD-MPN2006-2010-143051)
DOI: 10.1002/humu.20857
ISSN: 1059-7794
PubMed: 19021233
WoS: 000264011700005
Scopus: 2-s2.0-61649086681
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Zaimidou, Sophia AU - van Baal, Sjozef AU - Smith, Timothy D. AU - Mitropoulos, Konstantinos AU - Ljujić, Mila AU - Radojković, Dragica AU - Cotton, Richard G. AU - Patrinos, George P. PY - 2009 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/361 AB - We have developed a relational database of human SERPINA1 gene mutations, leading to a,antitrypsin (AAT) deficiency, called A(1)ATVar, which can be accessed over the World Wide Web at www.goldenhelix.org/A1ATVar. Extensive information has been extracted from the literature and converted into a searchable database, including genotype information, clinical phenotype, allelic frequencies for the commonest AAT variant alleles, methods of detection, and references. Mutation summaries are automatically displayed and user-generated queries can be formulated based on fields in the database. A separate module, linked to the FINDbase database for frequencies of inherited disorders allows the user to access allele frequency information for the three most frequent AAT alleles, namely PiM, PiS, and PiZ. The available experimental protocols to detect AAT variant alleles at the protein and DNA levels have been archived in a searchable format. A visualization tool, called VariVis, has been implemented to combine A(1)ATVar variant information with SERPINA1 sequence and annotation data. A direct data submission tool allows registered users to submit data on novel AAT variant alleles as well as experimental protocols to explore SERPINA1 genetic heterogeneity, via a password-protected interface. Database access is free of charge and there are no registration requirements for querying the data. The A(1)ATVar database is the only integrated database on the Internet offering summarized information on AAT allelic variants and could be useful not only for clinical diagnosis and research on AAT deficiency and the SERPINA1 gene, but could also serve as an example for an all-in-one solution for locus-specific database (LSDB) development and curation. Hum Mutat 30, 308-313, 2009. PB - Wiley-Blackwell, Malden T2 - Human Mutation T1 - A(1)ATVar: A Relational Database of Human SERPINA1 Gene Variants Leading to alpha(1)-Antitrypsin Deficiency and Application of the VariVis Software EP - 313 IS - 3 SP - 308 VL - 30 DO - 10.1002/humu.20857 ER -
@article{ author = "Zaimidou, Sophia and van Baal, Sjozef and Smith, Timothy D. and Mitropoulos, Konstantinos and Ljujić, Mila and Radojković, Dragica and Cotton, Richard G. and Patrinos, George P.", year = "2009", abstract = "We have developed a relational database of human SERPINA1 gene mutations, leading to a,antitrypsin (AAT) deficiency, called A(1)ATVar, which can be accessed over the World Wide Web at www.goldenhelix.org/A1ATVar. Extensive information has been extracted from the literature and converted into a searchable database, including genotype information, clinical phenotype, allelic frequencies for the commonest AAT variant alleles, methods of detection, and references. Mutation summaries are automatically displayed and user-generated queries can be formulated based on fields in the database. A separate module, linked to the FINDbase database for frequencies of inherited disorders allows the user to access allele frequency information for the three most frequent AAT alleles, namely PiM, PiS, and PiZ. The available experimental protocols to detect AAT variant alleles at the protein and DNA levels have been archived in a searchable format. A visualization tool, called VariVis, has been implemented to combine A(1)ATVar variant information with SERPINA1 sequence and annotation data. A direct data submission tool allows registered users to submit data on novel AAT variant alleles as well as experimental protocols to explore SERPINA1 genetic heterogeneity, via a password-protected interface. Database access is free of charge and there are no registration requirements for querying the data. The A(1)ATVar database is the only integrated database on the Internet offering summarized information on AAT allelic variants and could be useful not only for clinical diagnosis and research on AAT deficiency and the SERPINA1 gene, but could also serve as an example for an all-in-one solution for locus-specific database (LSDB) development and curation. Hum Mutat 30, 308-313, 2009.", publisher = "Wiley-Blackwell, Malden", journal = "Human Mutation", title = "A(1)ATVar: A Relational Database of Human SERPINA1 Gene Variants Leading to alpha(1)-Antitrypsin Deficiency and Application of the VariVis Software", pages = "313-308", number = "3", volume = "30", doi = "10.1002/humu.20857" }
Zaimidou, S., van Baal, S., Smith, T. D., Mitropoulos, K., Ljujić, M., Radojković, D., Cotton, R. G.,& Patrinos, G. P.. (2009). A(1)ATVar: A Relational Database of Human SERPINA1 Gene Variants Leading to alpha(1)-Antitrypsin Deficiency and Application of the VariVis Software. in Human Mutation Wiley-Blackwell, Malden., 30(3), 308-313. https://doi.org/10.1002/humu.20857
Zaimidou S, van Baal S, Smith TD, Mitropoulos K, Ljujić M, Radojković D, Cotton RG, Patrinos GP. A(1)ATVar: A Relational Database of Human SERPINA1 Gene Variants Leading to alpha(1)-Antitrypsin Deficiency and Application of the VariVis Software. in Human Mutation. 2009;30(3):308-313. doi:10.1002/humu.20857 .
Zaimidou, Sophia, van Baal, Sjozef, Smith, Timothy D., Mitropoulos, Konstantinos, Ljujić, Mila, Radojković, Dragica, Cotton, Richard G., Patrinos, George P., "A(1)ATVar: A Relational Database of Human SERPINA1 Gene Variants Leading to alpha(1)-Antitrypsin Deficiency and Application of the VariVis Software" in Human Mutation, 30, no. 3 (2009):308-313, https://doi.org/10.1002/humu.20857 . .