The ENCODE Imputation Challenge: a critical assessment of methods for cross-cell type imputation of epigenomic profiles.


Journal

Genome biology
ISSN: 1474-760X
Titre abrégé: Genome Biol
Pays: England
ID NLM: 100960660

Informations de publication

Date de publication:
18 04 2023
Historique:
received: 30 07 2022
accepted: 24 03 2023
medline: 20 4 2023
pubmed: 19 4 2023
entrez: 19 04 2023
Statut: epublish

Résumé

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.

Identifiants

pubmed: 37072822
doi: 10.1186/s13059-023-02915-y
pii: 10.1186/s13059-023-02915-y
pmc: PMC10111747
doi:

Types de publication

Journal Article Research Support, U.S. Gov't, Non-P.H.S. Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

79

Subventions

Organisme : NHGRI NIH HHS
ID : U24 HG009446
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG008155
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG009444
Pays : United States
Organisme : NIGMS NIH HHS
ID : R35 GM124952
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG012069
Pays : United States
Organisme : NIGMS NIH HHS
ID : R35 GM133346
Pays : United States
Organisme : NHGRI NIH HHS
ID : T32 HG000044
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG009442
Pays : United States
Organisme : NIGMS NIH HHS
ID : R35 GM134922
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG011466
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG009397
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG009390
Pays : United States

Informations de copyright

© 2023. The Author(s).

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Auteurs

Jacob Schreiber (J)

Stanford University School of Medicine, Stanford, CA, USA. jmschreiber91@gmail.com.

Carles Boix (C)

Stanford University School of Medicine, Stanford, CA, USA.

Jin Wook Lee (J)

Stanford University School of Medicine, Stanford, CA, USA.

Hongyang Li (H)

Stanford University School of Medicine, Stanford, CA, USA.

Yuanfang Guan (Y)

Stanford University School of Medicine, Stanford, CA, USA.

Chun-Chieh Chang (CC)

Stanford University School of Medicine, Stanford, CA, USA.

Jen-Chien Chang (JC)

Stanford University School of Medicine, Stanford, CA, USA.

Alex Hawkins-Hooker (A)

Stanford University School of Medicine, Stanford, CA, USA.

Bernhard Schölkopf (B)

Stanford University School of Medicine, Stanford, CA, USA.

Gabriele Schweikert (G)

Stanford University School of Medicine, Stanford, CA, USA.

Mateo Rojas Carulla (MR)

Stanford University School of Medicine, Stanford, CA, USA.

Arif Canakoglu (A)

Stanford University School of Medicine, Stanford, CA, USA.

Francesco Guzzo (F)

Stanford University School of Medicine, Stanford, CA, USA.

Luca Nanni (L)

Stanford University School of Medicine, Stanford, CA, USA.

Marco Masseroli (M)

Stanford University School of Medicine, Stanford, CA, USA.

Mark James Carman (MJ)

Stanford University School of Medicine, Stanford, CA, USA.

Pietro Pinoli (P)

Stanford University School of Medicine, Stanford, CA, USA.

Chenyang Hong (C)

Stanford University School of Medicine, Stanford, CA, USA.

Kevin Y Yip (KY)

Stanford University School of Medicine, Stanford, CA, USA.

Jeffrey P Spence (JP)

Stanford University School of Medicine, Stanford, CA, USA.

Sanjit Singh Batra (SS)

Stanford University School of Medicine, Stanford, CA, USA.

Yun S Song (YS)

Stanford University School of Medicine, Stanford, CA, USA.

Shaun Mahony (S)

Stanford University School of Medicine, Stanford, CA, USA.

Zheng Zhang (Z)

Stanford University School of Medicine, Stanford, CA, USA.

Wuwei Tan (W)

Stanford University School of Medicine, Stanford, CA, USA.

Yang Shen (Y)

Stanford University School of Medicine, Stanford, CA, USA.

Yuanfei Sun (Y)

Stanford University School of Medicine, Stanford, CA, USA.

Minyi Shi (M)

Stanford University School of Medicine, Stanford, CA, USA.

Jessika Adrian (J)

Stanford University School of Medicine, Stanford, CA, USA.

Richard Sandstrom (R)

Stanford University School of Medicine, Stanford, CA, USA.

Nina Farrell (N)

Stanford University School of Medicine, Stanford, CA, USA.

Jessica Halow (J)

Stanford University School of Medicine, Stanford, CA, USA.

Kristen Lee (K)

Stanford University School of Medicine, Stanford, CA, USA.

Lixia Jiang (L)

Stanford University School of Medicine, Stanford, CA, USA.

Xinqiong Yang (X)

Stanford University School of Medicine, Stanford, CA, USA.

Charles Epstein (C)

Stanford University School of Medicine, Stanford, CA, USA.

J Seth Strattan (JS)

Stanford University School of Medicine, Stanford, CA, USA.

Bradley Bernstein (B)

Stanford University School of Medicine, Stanford, CA, USA.

Michael Snyder (M)

Stanford University School of Medicine, Stanford, CA, USA.

Manolis Kellis (M)

Stanford University School of Medicine, Stanford, CA, USA.

William Stafford (W)

Stanford University School of Medicine, Stanford, CA, USA.

Anshul Kundaje (A)

Stanford University School of Medicine, Stanford, CA, USA.

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Classifications MeSH