MACIE scores for human genome assembly GRCh37 Part 4 (Chr14 - Chr22)
DOI10.5281/zenodo.5756563Zenodo5756563MaRDI QIDQ6675899
Dataset published at Zenodo repository.
Author name not available (Why is that?)
Publication date: 8 December 2021
Copyright license: No records found.
MACIE (Multi-dimensional Annotation Class Integrative Estimation) is an unsupervised multivariate mixed model framework to assess multi-dimensional functional impacts for both coding and non-coding variants in the human genome. MACIE integrates a variety of functional annotations, including protein function scores, evolutionary conservation scores, and epigenetic annotations from ENCODE and Roadmap Epigenomics, and estimates the joint posterior probabilities of each genetic variant being functional. For each non-coding and synonymous coding variant, the MACIE score is a vector of length 4, representing the estimated joint posterior probabilities of not evolutionarily conserved and regulatory functional (MACIE01); evolutionarily conserved and not regulatory functional (MACIE10); not evolutionarily conserved and not regulatory functional (MACIE00); both evolutionarily conserved and regulatory functional (MACIE11). MACIE_conserved is the estimated posterior probability of evolutionarily conserved, which is the sum of MACIE10 and MACIE11; MACIE_regulatory is the estimated posterior probability of regulatory functional, which is the sum of MACIE01 and MACIE11; MACIE_anyclass is the estimated posterior probability of evolutionarily conserved or regulatory functional, which is the sum of MACIE01, MACIE10, and MACIE11.
This page was built for dataset: MACIE scores for human genome assembly GRCh37 Part 4 (Chr14 - Chr22)
