Evidence map›Paper›PMID 32216817›Full record

ArticleGenome biology2020

DeepMILO: a deep learning approach to predict the impact of non-coding sequence variants on 3D chromatin structure.

Tuan Trieu, Alexander Martinez-Fundichely, Ekta Khurana

Open access · goldAbstract read
In one paragraph

Article in Genome biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
2.8field-weighted citation impact, top 9% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

32 citing papers in PubMed, 61 citations in OpenAlex.

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  9. Machine and Deep Learning Methods for Predicting 3D Genome Organization.Methods in molecular biology (Clifton, N.J.) · 2025
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 2 institutions in 2 countries.

Tuan TrieuMeyer Cancer Center, Weill Cornell Medicine, New York, NY, 10065, USA. tuanta.ict@gmail.com.
Alexander Martinez-FundichelyMeyer Cancer Center, Weill Cornell Medicine, New York, NY, 10065, USA.
Ekta KhuranaMeyer Cancer Center, Weill Cornell Medicine, New York, NY, 10065, USA. ekk2003@med.cornell.edu.
Cornell University · USWeill Cornell Medicine · US

Funding

Predicting the functional impact of non-coding mutations using patient-specific gene regulatory networksR01CA218668 · NCI · WEILL MEDICAL COLL OF CORNELL UNIV · PI EKTA KHURANA, Neville Sanjana · 2018 to 2026
$4.7M
NCI NIH HHS R01 CA218668
6 · The paper itself

Abstract

Non-coding variants have been shown to be related to disease by alteration of 3D genome structures. We propose a deep learning method, DeepMILO, to predict the effects of variants on CTCF/cohesin-mediated insulator loops. Application of DeepMILO on variants from whole-genome sequences of 1834 patients of twelve cancer types revealed 672 insulator loops disrupted in at least 10% of patients. Our results show mutations at loop anchors are associated with upregulation of the cancer driver genes BCL2 and MYC in malignant lymphoma thus pointing to a possible new mechanism for their dysregulation via alteration of insulator loops.

Indexed as

Deep LearningInsulator ElementsCCCTC-Binding FactorCell Cycle ProteinsCell Line, TumorChromatinChromosomal Proteins, Non-HistoneCohesinsHumansMutationNeoplasmsWhole Genome SequencingCCCTC-Binding FactorCell Cycle ProteinsChromatinChromosomal Proteins, Non-HistoneCohesins3D genomeBCL2CancerDeep learningMYCNon-coding mutation

Identifiers

PMID32216817
PMCPMC7098089
OpenAlexW3013411594

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.