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VINYL: Variant prIoritizatioN by survivaL analysis
Bioinformatics ( IF 5.8 ) Pub Date : 2020-12-26 , DOI: 10.1093/bioinformatics/btaa1067
Matteo Chiara 1, 2 , Pietro Mandreoli 1 , Marco Antonio Tangaro 2 , Anna Maria D'Erchia 2, 3 , Sandro Sorrentino 4 , Cinzia Forleo 4 , David S Horner 1, 2 , Federico Zambelli 1, 2 , Graziano Pesole 2, 3
Affiliation  

Clinical applications of genome re-sequencing technologies typically generate large amounts of data that need to be carefully annotated and interpreted to identify genetic variants potentially associated with pathological conditions. In this context, accurate and reproducible methods for the functional annotation and prioritization of genetic variants are of fundamental importance.

中文翻译:

VINYL:通过生存分析确定变异优先级

基因组重测序技术的临床应用通常会产生大量数据,需要仔细注释和解释这些数据,以识别可能与病理状况相关的遗传变异。在这种情况下,用于遗传变异功能注释和优先排序的准确且可重复的方法至关重要。
更新日期:2020-12-26
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