Evidence map›Paper›PMID 30478442›Full record

ReviewNature genetics2019

A primer on deep learning in genomics.

James Zou, Mikael Huss, Abubakar Abid, Pejman Mohammadi, Ali Torkamani, Amalio Telenti

Abstract readReview
In one paragraph

Review in Nature genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 392 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
392citing papers in PubMed, 2 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

392 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
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  10. The evolution of AI-integrated genome editing and its challenges.Mammalian genome : official journal of the International Mammalian Genome Society · 2026
    Review
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332 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

6 authors.

James ZouDepartment of Biomedical Data Science, Stanford University, Palo Alto, CA, USA. jamesz@stanford.edu.ORCID http://orcid.org/0000-0001-8880-4764
Mikael HussPeltarion, Stockholm, Sweden.
Abubakar AbidDepartment of Electrical Engineering, Stanford University, Palo Alto, CA, USA.
Pejman MohammadiScripps Research Translational Institute, La Jolla, CA, USA.
Ali TorkamaniScripps Research Translational Institute, La Jolla, CA, USA.ORCID http://orcid.org/0000-0003-0232-8053
Amalio TelentiScripps Research Translational Institute, La Jolla, CA, USA. atelenti@scripps.edu.ORCID http://orcid.org/0000-0001-6290-7677

Funding

Scripps Translational Science InstituteUL1TR002550 · NCATS · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2018 to 2022
$28.9M
CD2H - The National COVID Cohort Collaborative (N3C) IDeA CTR CollaborationU24TR002306 · NCATS · UNIVERSITY OF COLORADO DENVER · PI CHUTE, CHRISTOPHER G, EICHMANN, DAVID A. · 2017 to 2021
$28.9M
TRAININGU54GM114833 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI LINDSEY, MERRY L., PING, PEIPEI · 2014 to 2017
$13.8M
Stanford Medicine Center for Longevity and Healthy Aging Research Education CoreP30AG059307 · NIA · STANFORD UNIVERSITY · PI ZOU, JAMES · 2018 to 2025
$4.9M
NCATS NIH HHS U24 TR002306NCATS NIH HHS UL1 TR002550NIA NIH HHS P30 AG059307NIGMS NIH HHS U54 GM114833NIH HHS U24TR002306NIH HHS U54GM114833NIH HHS UL1TR002550
6 · The paper itself

Abstract

Deep learning methods are a class of machine learning techniques capable of identifying highly complex patterns in large datasets. Here, we provide a perspective and primer on deep learning applications for genome analysis. We discuss successful applications in the fields of regulatory genomics, variant calling and pathogenicity scores. We include general guidance for how to effectively use deep learning methods as well as a practical guide to tools and resources. This primer is accompanied by an interactive online tutorial.

Indexed as

Deep LearningGenome, HumanGenomicsHumansMachine Learning

Identifiers

PMID30478442
PMCPMC11180539

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.