Evidence map›Paper›PMID 31271844›Full record

ArticleJournal of biomedical informatics2019

Cancer classification and pathway discovery using non-negative matrix factorization.

Zexian Zeng, Andy H Vo, Chengsheng Mao, Susan E Clare, Seema A Khan, Yuan Luo

Open access · greenAbstract read
In one paragraph

Article in Journal of biomedical informatics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
2.1field-weighted citation impact, top 12% 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

17 citing papers in PubMed, 33 citations in OpenAlex.

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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

6 authors at 2 institutions in 1 country.

Zexian ZengDepartment of Preventive Medicine, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.
Andy H VoCommittee on Developmental Biology and Regenerative Medicine, The University of Chicago, Chicago, IL, USA.
Chengsheng MaoDepartment of Preventive Medicine, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.
Susan E ClareDepartment of Surgery, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA. Electronic address: susan.clare@northwestern.edu.
Seema A KhanDepartment of Surgery, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA. Electronic address: s-khan2@northwestern.edu.
Yuan LuoDepartment of Preventive Medicine, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA. Electronic address: yuan.luo@northwestern.edu.
Northwestern University · USUniversity of Chicago · US

Funding

National Infrastructure for Standardized and Portable EHR Phenotyping AlgorithmsR01GM105688 · NIGMS · WEILL MEDICAL COLL OF CORNELL UNIV · PI LUO, YUAN, PATHAK, JYOTISHMAN · 2013 to 2020
$5.7M
Bayesian Generative Methods for Extracting and Modeling Relations in EHR NarrativesR21LM012618 · NLM · NORTHWESTERN UNIVERSITY AT CHICAGO · PI LUO, YUAN · 2017 to 2018
$390k
NIGMS NIH HHS R01 GM105688NLM NIH HHS R21 LM012618
6 · The paper itself

Abstract

objectivesExtracting genetic information from a full range of sequencing data is important for understanding disease. We propose a novel method to effectively explore the landscape of genetic mutations and aggregate them to predict cancer type.

designWe applied non-smooth non-negative matrix factorization (nsNMF) and support vector machine (SVM) to utilize the full range of sequencing data, aiming to better aggregate genetic mutations and improve their power to predict disease type. More specifically, we introduce a novel classifier to distinguish cancer types using somatic mutations obtained from whole-exome sequencing data. Mutations were identified from multiple cancers and scored using SIFT, PP2, and CADD, and collapsed at the individual gene level. nsNMF was then applied to reduce dimensionality and obtain coefficient and basis matrices. A feature matrix was derived from the obtained matrices to train a classifier for cancer type classification with the SVM model.

resultsWe have demonstrated that the classifier was able to distinguish four cancer types with reasonable accuracy. In five-fold cross-validations using mutation counts as features, the average prediction accuracy was 80% (SEM = 0.1%), significantly outperforming baselines and outperforming models using mutation scores as features.

conclusionUsing the factor matrices derived from the nsNMF, we identified multiple genes and pathways that are significantly associated with each cancer type. This study presents a generic and complete pipeline to study the associations between somatic mutations and cancers. The proposed method can be adapted to other studies for disease status classification and pathway discovery.

Indexed as

Gene Expression Regulation, NeoplasticMutationSupport Vector MachineAlgorithmsCell Line, TumorDatabases, GeneticDiagnosis, Computer-AssistedExomeHumansNeoplasmsPilot ProjectsRegression AnalysisReproducibility of ResultsSequence Analysis, DNACancerClassificationNon-negative matrix factorizationPathwaySomatic mutationWhole-exome sequencing

Identifiers

PMID31271844
PMCPMC6697569
OpenAlexW2954745675

What OpenQuestion holds

Textmetadata
LicenceTDM
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.