Evidence map›Paper›PMID 34713318›Full record

ReviewHuman genetics2022

The promise of automated machine learning for the genetic analysis of complex traits.

Elisabetta Manduchi, Joseph D Romano, Jason H Moore

Open access · hybridAbstract readReview
In one paragraph

Review in Human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
2.4field-weighted citation impact, top 10% 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

8 citing papers in PubMed, 21 citations in OpenAlex.

  1. Article
  2. Sex-dependent prediction of autism.Frontiers in genetics · 2026
    Article
  3. Article
  4. Review
  5. Review
  6. Review
  7. Article
  8. Precision Medicine Approaches with Metabolomics and Artificial Intelligence.International journal of molecular sciences · 2022
    Review
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 1 country.

Elisabetta ManduchiDepartment of Biostatistics, Epidemiology and Informatics, University of Pennsylvania, Philadelphia, PA, 19104, USA.ORCID http://orcid.org/0000-0002-4110-3714
Joseph D RomanoDepartment of Biostatistics, Epidemiology and Informatics, University of Pennsylvania, Philadelphia, PA, 19104, USA.ORCID http://orcid.org/0000-0002-7999-4399
Jason H MooreDepartment of Biostatistics, Epidemiology and Informatics, University of Pennsylvania, Philadelphia, PA, 19104, USA. jhmoore@upenn.edu.ORCID http://orcid.org/0000-0002-5015-1099
University of Pennsylvania · USUniversity City Science Center · US

Funding

Translational Research Support CoreP30ES013508 · NIEHS · UNIVERSITY OF PENNSYLVANIA · PI A. Clementina Mesaros · 2006 to 2026
$35.3M
Artificial Intelligence Strategies for Alzheimer's Disease ResearchU01AG066833 · NIA · CEDARS-SINAI MEDICAL CENTER · PI MOORE, JASON H., RITCHIE, MARYLYN D · 2022 to 2025
$6.7M
Translational Research Training Program in Environmental Health SciencesT32ES019851 · NIEHS · UNIVERSITY OF PENNSYLVANIA · PI Kara A Bernstein, Trevor M Penning · 2012 to 2026
$6.0M
Bioinformatics Strategies for Genome-Wide Association StudiesR01LM010098 · NLM · UNIVERSITY OF PENNSYLVANIA · PI MOORE, JASON H., WILLIAMS, SCOTT MATTHEW · 2009 to 2023
$5.1M
Artificial Intelligence Strategies for Alzheimer's Disease ResearchR01AG066833 · NIA · UNIVERSITY OF PENNSYLVANIA · PI MOORE, JASON H., RITCHIE, MARYLYN D · 2021 to 2021
$1.6M
Discovering clinical endpoints of toxicity via graph machine learning and semantic data analysisR00LM013646 · NLM · UNIVERSITY OF PENNSYLVANIA · PI ROMANO, JOSEPH DANIEL · 2023 to 2025
$646k
NIA NIH HHS R01 AG066833NIA NIH HHS U01 AG066833NIEHS NIH HHS P30 ES013508NIEHS NIH HHS T32 ES019851NIH HHS AG066833NIH HHS LM010098NIH HHS T32-ES019851NLM NIH HHS R00 LM013646NLM NIH HHS R01 LM010098
6 · The paper itself

Abstract

The genetic analysis of complex traits has been dominated by parametric statistical methods due to their theoretical properties, ease of use, computational efficiency, and intuitive interpretation. However, there are likely to be patterns arising from complex genetic architectures which are more easily detected and modeled using machine learning methods. Unfortunately, selecting the right machine learning algorithm and tuning its hyperparameters can be daunting for experts and non-experts alike. The goal of automated machine learning (AutoML) is to let a computer algorithm identify the right algorithms and hyperparameters thus taking the guesswork out of the optimization process. We review the promises and challenges of AutoML for the genetic analysis of complex traits and give an overview of several approaches and some example applications to omics data. It is our hope that this review will motivate studies to develop and evaluate novel AutoML methods and software in the genetics and genomics space. The promise of AutoML is to enable anyone, regardless of training or expertise, to apply machine learning as part of their genetic analysis strategy.

Indexed as

Machine LearningMultifactorial InheritanceAlgorithmsGenomicsHumansSoftware

Identifiers

PMID34713318
PMCPMC9360157
OpenAlexW3208034472

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.