We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Prioritization and functional assessment of noncoding variants associated with complex diseases.
- Authors
Zhou, Lin; Zhao, Fangqing
- Abstract
Unraveling functional noncoding variants associated with complex diseases is still a great challenge. We present a novel algorithm, Prioritization And Functional Assessment (PAFA), that prioritizes and assesses the functionality of genetic variants by introducing population differentiation measures and recalibrating training variants. Comprehensive evaluations demonstrate that PAFA exhibits much higher sensitivity and specificity in prioritizing noncoding risk variants than existing methods. PAFA achieves improved performance in distinguishing both common and rare recurrent variants from non-recurrent variants by integrating multiple annotations and metrics. An integrated platform was developed, providing comprehensive functional annotations for noncoding variants by integrating functional genomic data, which can be accessed at <ext-link>http://159.226.67.237:8080/pafa</ext-link>.
- Subjects
NON-coding RNA; RNA polymerases; HISTONE genetics; GENETIC code; GENE expression
- Publication
Genome Medicine, 2018, Vol 10, Issue 1, pN.PAG
- ISSN
1756-994X
- Publication type
Article
- DOI
10.1186/s13073-018-0565-y