Evidence map›Paper›PMID 39415008›Full record

ArticleNature2024

Quantifying constraint in the human mitochondrial genome.

Nicole J Lake, Kaiyue Ma, Wei Liu, Stephanie L Battle, Kristen M Laricchia, Grace Tiao, Daniela Puiu, Kenneth K Ng, Justin Cohen, Alison G Compton and 7 more

Abstract read
In one paragraph

Article in Nature, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.

0numbers the graph read from it
0cells of the map it votes in
47citing papers in PubMed
–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

47 citing papers in PubMed.

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  17. Associations of Blood Mitochondrial DNA Quality and Quantity with Risk of Kidney Function Decline.Clinical journal of the American Society of Nephrology : CJASN · 2026
    Article
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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

17 authors.

Nicole J LakeDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA. nicole.lake@yale.edu.ORCID 0000-0003-4103-6387
Kaiyue Ma *Department of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0009-0001-4302-3371
Wei Liu *Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.
Stephanie L BattleMcKusick-Nathans Institute, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-3131-0605
Kristen M LaricchiaBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Grace TiaoBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Daniela PuiuDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
Kenneth K NgDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0003-4218-8841
Justin CohenDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.
Alison G ComptonMurdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.ORCID 0000-0002-2725-7055
Shannon CowieVictorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.
John ChristodoulouMurdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.ORCID 0000-0002-8431-0641
David R ThorburnMurdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.ORCID 0000-0002-7725-9470
Hongyu ZhaoDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0003-1195-9607
Dan E ArkingMcKusick-Nathans Institute, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0001-8980-8695
Shamil R SunyaevBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-5715-5677
Monkol LekDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA. monkol.lek@yale.edu.ORCID 0000-0003-1227-6293

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Technological Assessment and Solutions Core - RC4P30AG021334 · NIA · JOHNS HOPKINS UNIVERSITY · PI Jeremy D Walston · 2003 to 2026
$33.2M
Mitochondrial DNA heteroplasmy and risk for atherosclerotic cardiovascular disease (ASCVD)R01HL144569 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI ARKING, DAN E · 2019 to 2022
$3.1M
Pacific Bioscience Sequel II sequencing system for the Yale Center for Genome Analysis (YCGA)S10OD028669 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2020 to 2020
$407k
NCATS NIH HHS UL1 TR001863NHLBI NIH HHS R01 HL144569NIA NIH HHS P30 AG021334NIH HHS S10 OD028669
6 · The paper itself

Abstract

Mitochondrial DNA (mtDNA) has an important yet often overlooked role in health and disease. Constraint models quantify the removal of deleterious variation from the population by selection and represent powerful tools for identifying genetic variation that underlies human phenotypes

Indexed as

DNA, MitochondrialGenetic VariationGenome, MitochondrialModels, GeneticDatabases, GeneticDatasets as TopicFemaleGenome, HumanHeteroplasmyHumansMitochondriaMitochondrial ProteinsMutationPhenotypeRNA, RibosomalRNA, TransferDNA, MitochondrialMitochondrial ProteinsRNA, RibosomalRNA, Transfer

Identifiers

PMID39415008
PMCPMC11646341

What OpenQuestion holds

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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.