Evidence map›Paper›PMID 41282933›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Long-read genome sequencing and multi-omics in aging and neurodegeneration.

Tanner D Jensen, Yann Le Guen, Lia Talozzi, Sherry Yang, John Gorzynski, Andrés Peña-Tauber, Ilaria Stewart, Alexis Ferrasse, Daniel Nachun, Maggie T Arriaga and 13 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. 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
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

23 authors.

Tanner D JensenDepartment of Genetics, Stanford University School of Medicine, Stanford, CA.ORCID 0000-0002-1873-8607
Yann Le GuenQuantitative Sciences Unit, Department of Medicine, Stanford University School of Medicine, Stanford, CA.ORCID 0000-0001-6649-8364
Lia TalozziDepartment of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA.ORCID 0000-0003-1827-0407
Sherry YangDepartment of Bioengineering, Stanford University, Stanford, CA.ORCID 0000-0002-6570-4864
John GorzynskiDepartment of Genetics, Stanford University School of Medicine, Stanford, CA.ORCID 0000-0002-9034-9016
Andrés Peña-TauberDepartment of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA.ORCID 0000-0001-9501-4920
Ilaria StewartDepartment of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA.ORCID 0000-0002-8655-9387
Alexis FerrasseDivision of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA.
Daniel NachunDepartment of Pathology, Stanford University School of Medicine, Stanford, CA.
Maggie T ArriagaDepartment of Genetics, Stanford University School of Medicine, Stanford, CA.ORCID 0009-0002-2330-7980
Justin LeeQuantitative Sciences Unit, Department of Medicine, Stanford University School of Medicine, Stanford, CA.
Rafael Catoia PulgrossiQuantitative Sciences Unit, Department of Medicine, Stanford University School of Medicine, Stanford, CA.
Junyoung ParkDepartment of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA.
Jingyu ZhangDepartment of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA.
Anthony D WagnerDepartment of Psychology, Stanford University, Stanford, CA, USA.ORCID 0000-0003-0624-4543
Elizabeth C MorminoDepartment of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA.
Kathleen L PostonDepartment of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA.ORCID 0000-0003-3424-7143
Victor W HendersonDepartment of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA.
Zihuai HeQuantitative Sciences Unit, Department of Medicine, Stanford University School of Medicine, Stanford, CA.
Tony Wyss-CorayDepartment of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA.ORCID 0000-0001-5893-0831
Stephen B MontgomeryDepartment of Pathology, Stanford University School of Medicine, Stanford, CA.
Euan A AshleyDivision of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA.
Michael D GreiciusDepartment of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA.

Funding

INSTITUTIONAL TRAINING GRANT IN GENOME SCIENCET32HG000044 · NHGRI · STANFORD UNIVERSITY · PI MICHAEL P. SNYDER · 1995 to 2026
$32.2M
Stanford Alzheimer's Disease Research CenterAdmin Supp: Developing iPSC models for AD and PDP30AG066515 · NIA · STANFORD UNIVERSITY · PI Lisa Goldman Rosas · 2020 to 2026
$29.0M
Stanford Mendelian Genomics Research CenterU01HG011762 · NHGRI · STANFORD UNIVERSITY · PI Jonathan Adam Bernstein, Stephen Montgomery · 2021 to 2026
$16.7M
Hippocampal-dependent memory decline in aging and early Alzheimer's diseaseR01AG074339 · NIA · STANFORD UNIVERSITY · PI ELIZABETH MORMINO · 2022 to 2026
$6.0M
Illuminating the APOE Locus with Long-Read Sequencing and Targeted GenomicsR35AG072290 · NIA · STANFORD UNIVERSITY · PI GREICIUS, MICHAEL D · 2021 to 2025
$4.6M
High-resolution imaging of hippocampal mechanisms in age-related memory decline.R01AG048076 · NIA · STANFORD UNIVERSITY · PI WAGNER, ANTHONY D · 2014 to 2018
$1.9M
Object Storage for Secure Data SharingS10OD025082 · OD · STANFORD UNIVERSITY · PI DATTA, SOMALEE · 2018 to 2018
$593k
NHGRI NIH HHS T32 HG000044NHGRI NIH HHS U01 HG011762NIA NIH HHS P30 AG066515NIA NIH HHS R01 AG048076NIA NIH HHS R01 AG074339NIA NIH HHS R35 AG072290NIH HHS S10 OD025082
6 · The paper itself

Abstract

Structural variants (SVs) are a major source of genetic variation yet remain underexplored in healthy aging and neurodegenerative diseases. We performed nanopore long-read genome sequencing (lrGS) on 551 deeply-phenotyped individuals from Stanford's Aging and Memory Study and Alzheimer's Disease Research Center, generating a comprehensive SV map integrated with matched methylation, transcriptomic, and proteomic data. Over 60% of SVs identified by lrGS were not detected with short-read WGS, including many poorly tagged by single-nucleotide variants (SNVs). We discovered >60,000 SV-QTLs across molecular traits and showed that SVs were more likely than SNVs to be fine-mapped as causal. Colocalization with Alzheimer's and Parkinson's disease GWAS implicated SVs at multiple loci, including

Identifiers

PMID41282933
PMCPMC12633103

What OpenQuestion holds

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Registered trials

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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.