ArticleGenes2026
MSeqDR PMD-VR: An Expert-Curated Virtual Registry of 11,000 Mitochondrial Disease Cases Established Through Literature Mining and Generative AI Augmentation.
Lishuang Shen, Marie T Lott, Elizabeth M Mccormick, Colleen C Muraresku, Kierstin Keller, Douglas C Wallace, Zarazuela Zolkipli-Cunningham, Shamima Rahman, Marni J Falk, Xiaowu Gai
Abstract read
In one paragraphArticle in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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 registryThe 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 literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
10 authors.
Lishuang ShenPathology Informatics, Bioinformatics, and Data Science, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.ORCID 0000-0002-0436-0199 Marie T LottCenter for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0003-2035-479X Elizabeth M MccormickMitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Colleen C MurareskuMitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0003-0045-1664 Kierstin KellerCenter for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0002-4360-474X Douglas C WallaceCenter for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0002-7480-8278 Zarazuela Zolkipli-CunninghamCenter for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0002-0743-8879 Shamima RahmanDepartment of Genetics & Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.ORCID 0000-0003-2088-730X Marni J FalkCenter for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0002-1723-6728 Xiaowu GaiDepartment of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Funding
Resource ProjectU41HG006834 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI REHM, HEIDI L · 2013 to 2020
$26.9MThe North American Mitochondrial Disease Consortium (NAMDC)U54NS078059 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI HAAS, RICHARD H · 2011 to 2023
$17.5MPrimary Mitochondrial Disease Expert Curation PanelU24HD093483 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI FALK, MARNI J, GAI, XIAOWU · 2017 to 2023
$2.2MValidating Causality of Disputed Mitochondrial Variants in Inborn Errors of MetabolismR01HD121570 · NICHD · MEDICAL COLLEGE OF WISCONSIN · PI Stephen Carl Ekker, MARNI J FALK · 2026 to 2026
$715kNHGRI NIH HHS U41 HG006834NICHD NIH HHS R01 HD121570NICHD NIH HHS U24 HD093483NIH HHS 2U24HD093483-04NINDS NIH HHS U54 NS078059
6 · The paper itselfAbstract
PubMed holds no abstract for this paper.
Indexed as
Data MiningMitochondrial DiseasesRegistriesBiocurationGenerative Artificial IntelligenceHumansLarge Language ModelsPhenotypeGenerative AI (GenAI)human phenotype ontology (HPO)large language modelLeigh syndrome spectrum (LSS)literature miningmitochondrial diseaserare disease
Identifiers
PMID42510797
PMCPMC13408853
What OpenQuestion holds
Textmetadata
LicenceCC BY
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