Evidence map›Paper›PMID 36343260›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2022

Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.

Megan L Koleske, Gregory McInnes, Julia E H Brown, Neil Thomas, Keino Hutchinson, Marcus Y Chin, Antoine Koehl, Michelle R Arkin, Avner Schlessinger, Renata C Gallagher and 3 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 2 pooled it
4.2field-weighted citation impact, top 5% 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

19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 33 citations in OpenAlex.

  1. Pooled it
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  5. Pathogenic Analysis of TwoInternational journal of neonatal screening · 2026
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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

13 authors at 4 institutions in 1 country.

Megan L KoleskeDepartment of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA 94143.ORCID 0000-0002-9826-6442
Gregory McInnesBiomedical Informatics Training Program, Stanford University, Stanford, CA 94305.ORCID 0000-0002-8033-2499
Julia E H BrownProgram in Bioethics, University of California, San Francisco, CA 94143.ORCID 0000-0002-8724-693X
Neil ThomasComputer Science Division, University of California, Berkeley, CA 94720.ORCID 0000-0002-9089-1921
Keino HutchinsonDepartment of Pharmacological Sciences, Icahn School of Medicine at Mt. Sinai, New York, NY 10029.
Marcus Y ChinSmall Molecule Discovery Center, Department of Pharmaceutical Chemistry, University of California, San Francisco, CA 94143.
Antoine KoehlDepartment of Statistics, University of California, Berkeley, CA 94720.
Michelle R ArkinSmall Molecule Discovery Center, Department of Pharmaceutical Chemistry, University of California, San Francisco, CA 94143.ORCID 0000-0002-9366-6770
Avner SchlessingerDepartment of Pharmacological Sciences, Icahn School of Medicine at Mt. Sinai, New York, NY 10029.ORCID 0000-0003-4007-7814
Renata C GallagherInstitute for Human Genetics, University of California, San Francisco, CA 94143.
Yun S SongComputer Science Division, University of California, Berkeley, CA 94720.ORCID 0000-0002-0734-9868
Russ B AltmanDepartment of Bioengineering, Stanford University, Stanford, CA 94305.ORCID 0000-0003-3859-2905
Kathleen M GiacominiDepartment of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA 94143.ORCID 0000-0001-8041-5430
University of California, San Francisco · USUniversity of California, Berkeley · USIcahn School of Medicine at Mount Sinai · USStanford University · US

Funding

Teaching biomedical and pharmacological trainees to produce FAIR data for AI & ML applicationsT32GM062754 · NIGMS · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI SCHLESSINGER, AVNER · 2001 to 2023
$6.2M
Robust and efficient statistical inference methods for genomicsR35GM134922 · NIGMS · UNIVERSITY OF CALIFORNIA BERKELEY · PI SONG, YUN S · 2020 to 2024
$2.0M
NIGMS NIH HHS R35 GM134922NIGMS NIH HHS T32 GM062754
6 · The paper itself

Abstract

Genetic variants in

Indexed as

CarnitineOrganic Cation Transport ProteinsCardiomyopathiesGenomicsHEK293 CellsHumansHyperammonemiaMuscular DiseasesSolute Carrier Family 22 Member 5CarnitineOrganic Cation Transport ProteinsSLC22A5 protein, humanSolute Carrier Family 22 Member 5machine learningrare diseasetransportervariant interpretation

Identifiers

PMID36343260
PMCPMC9674959
OpenAlexW4308430056

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.