首页|NCAD v1.0:a database for non-coding variant annotation and interpretation
NCAD v1.0:a database for non-coding variant annotation and interpretation
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The application of whole genome sequencing is expanding in clinical diagnostics across various genetic disorders,and the significance of non-coding variants in penetrant diseases is increasingly being demonstrated.Therefore,it is urgent to improve the diagnostic yield by exploring the pathogenic mecha-nisms of variants in non-coding regions.However,the interpretation of non-coding variants remains a significant challenge,due to the complex functional regulatory mechanisms of non-coding regions and the current limitations of available databases and tools.Hence,we develop the non-coding variant annotation database(NCAD,http://www.ncawdb.net/),encompassing comprehensive insights into 665,679,194 var-iants,regulatory elements,and element interaction details.Integrating data from 96 sources,spanning both GRCh37 and GRCh38 versions,NCAD v1.0 provides vital information to support the genetic diagnosis of non-coding variants,including allele frequencies of 12 diverse populations,with a particular focus on the population frequency information for 230,235,698 variants in 20,964 Chinese individuals.Moreover,it offers prediction scores for variant functionality,five categories of regulatory elements,and four types of non-coding RNAs.With its rich data and comprehensive coverage,NCAD serves as a valuable platform,empowering researchers and clinicians with profound insights into non-coding regulatory mechanisms while facilitating the interpretation of non-coding variants.
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