Abstract

A promising alternative to comprehensively performing genomics experiments is to, instead, perform a subset of experiments and use computational methods to impute the remainder. However, identifying the best imputation methods and what measures meaningfully evaluate performance are open questions. We address these questions by comprehensively analyzing 23 methods from the ENCODE Imputation Challenge. We find that imputation evaluations are challenging and confounded by distributional shifts from differences in data collection and processing over time, the amount of available data, and redundancy among performance measures. Our analyses suggest simple steps for overcoming these issues and promising directions for more robust research.

Details

Title
The ENCODE Imputation Challenge: a critical assessment of methods for cross-cell type imputation of epigenomic profiles
Author
Schreiber, Jacob; Boix, Carles; Lee, Jin wook; Li, Hongyang; Guan, Yuanfang; Chang, Chun-Chieh; Jen-Chien, Chang; Hawkins-Hooker, Alex; Schölkopf, Bernhard; Schweikert, Gabriele; Mateo Rojas Carulla; Canakoglu, Arif; Guzzo, Francesco; Nanni, Luca; Masseroli, Marco; Carman, Mark James
Pages
1-22
Section
Method
Publication year
2023
Publication date
2023
Publisher
BioMed Central
ISSN
14747596
e-ISSN
1474760X
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2803039122
Copyright
© 2023. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.