Evidence map›Paper›PMID 25948244›Full record

ReviewNature reviews. Genetics2015

Machine learning applications in genetics and genomics.

Maxwell W Libbrecht, William Stafford Noble

Abstract readReview
In one paragraph

Review in Nature reviews. Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 767 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
767citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

767 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Trends in Plant Breeding and Genetics.International journal of molecular sciences · 2026
    Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Diagnosis and classification of thalassemia disease using machine learning: Comparative analysis of traditional models and a novel hybrid approach.Technology and health care : official journal of the European Society for Engineering and Medicine · 2026
    Article
  11. Article
  12. Machine learning-based prediction of cross-immunity.Briefings in bioinformatics · 2026
    Article
  13. Review
  14. Article
  15. Article
  16. Review
  17. Review
  18. Discovery of a phenazine-thiol conjugase from sparse data using genome-informed machine learning.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  19. Article
  20. Article

707 more citing papers are in PubMed but not listed here.

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

2 authors.

Maxwell W LibbrechtDepartment of Computer Science and Engineering, University of Washington, 185 Stevens Way, Seattle, Washington 98195-2350, USA.
William Stafford Noble1] Department of Computer Science and Engineering, University of Washington, 185 Stevens Way, Seattle, Washington 98195-2350, USA. [2] Department of Genome Sciences, University of Washington, 3720 15th Ave NE Seattle, Washington 98195-5065, USA.

Funding

BIGDATA: DA: Interpreting massive genomic data sets via summarizationR01CA180777 · NCI · UNIVERSITY OF WASHINGTON · PI NOBLE, WILLIAM STAFFORD · 2013 to 2015
$642k
NCI NIH HHS R01 CA180777
6 · The paper itself

Abstract

The field of machine learning, which aims to develop computer algorithms that improve with experience, holds promise to enable computers to assist humans in the analysis of large, complex data sets. Here, we provide an overview of machine learning applications for the analysis of genome sequencing data sets, including the annotation of sequence elements and epigenetic, proteomic or metabolomic data. We present considerations and recurrent challenges in the application of supervised, semi-supervised and unsupervised machine learning methods, as well as of generative and discriminative modelling approaches. We provide general guidelines to assist in the selection of these machine learning methods and their practical application for the analysis of genetic and genomic data sets.

Indexed as

Artificial IntelligenceModels, GeneticAmino Acid SequenceAnimalsBase SequenceComputer SimulationDiscriminant AnalysisGenetics, MedicalGenomicsHumansMolecular Sequence Annotation

Identifiers

PMID25948244
PMCPMC5204302

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.