COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System
نویسندگان
چکیده
منابع مشابه
Detection of Lack of Function Mutation of P.R12X in SLC37A2 Locus in Montbeliarde and Holstein Cattle
The aim of this study was to identify the lack of function mutation of p.R12X affecting reproductive problems and abortion in SLC37A2 gene by PCR-SSCP and sequencing methods in Holstein and Montbeliarde cows, For this purpose, 250 blood samples (150 Holstein and 100 samples of Montbeliarde) were prepared and DNA was extracted by kit. A pair of specific primers was designed with Oligo7 software ...
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In this paper, we propose Context-based Music Recommendation (COMUS) ontology for modeling user’s musical preferences and context and for supporting reasoning about the user’s desired emotion and preferences. The COMUS provides an upper Music Ontology that captures concepts about the general properties of music such as title, artists and genre and also provides extensibility for adding domain-s...
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Mutation databases of human genes are assuming an increasing importance in all areas of health care. In addition, more and more experts in the mutations and diseases of particular genes are curating published and unpublished mutations in locus-specific databases (LSDB). These databases contain such extensive information that they have become known as knowledge bases. We analyzed these databases...
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The Alzheimer disease and frontotemporal dementia (AD&FTLD) and Parkinson disease (PD) Mutation Databases make available curated information of sequence variations in genes causing Mendelian forms of the most common neurodegenerative brain disease AD, frontotemporal lobar degeneration (FTLD), and PD. They are established resources for clinical geneticists, neurologists, and researchers in need ...
متن کاملContrasting Mutation Rates from Specific-Locus and Long-Term Mutation-Accumulation Procedures
Until recently, the two predominant ways to estimate mutation rates were the specific-locus method and the mutation-accumulation (Bateman-Mukai) method. Both involve seeding a number of parallel lines from a small, genetically uniform population, growing as long as is feasible but not so long as to allow selection to perturb mutant frequencies, and sometimes using extreme bottlenecks to facilit...
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ژورنال
عنوان ژورنال: BMC Genomics
سال: 2009
ISSN: 1471-2164
DOI: 10.1186/1471-2164-10-s3-s35