Evidence map›Paper›PMID 41040686›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Mapping genetic effects on splicing in ten thousand post-mortem brain samples reveals novel mediators of neurological disease risk.

Aline Réal, Kailash Bp, Winston H Dredge, Benjamin Z Muller, Beomjin Jang, Alex Tokolyi, Hong-Hee Won, Jack Humphrey, Towfique Raj, David A Knowles

Abstract readPreprint
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

10 authors.

Aline RéalNew York Genome Center, New York, NY, USA.ORCID 0000-0002-9437-4411
Kailash BpRonald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-1501-4881
Winston H DredgeRonald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0001-7897-3185
Benjamin Z MullerRonald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Beomjin JangRonald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0009-0008-9056-1480
Alex TokolyiNew York Genome Center, New York, NY, USA.ORCID 0000-0003-4222-7484
Hong-Hee WonDepartment of Digital Health, Samsung Advanced Institute for Health Sciences & Technology (SAIHST), Sungkyunkwan University, Seoul, Republic of Korea.ORCID 0000-0001-5719-0552
Jack HumphreyRonald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-6274-6620
Towfique RajRonald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-9355-5704
David A KnowlesNew York Genome Center, New York, NY, USA.ORCID 0000-0002-7408-146X

Funding

Conduits: Mount Sinai Health System Translational Science HubUL1TR004419 · NCATS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Rosalind J Wright · 2022 to 2026
$46.4M
Research Education ComponentP30AG066514 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Margaret Sewell · 2020 to 2026
$31.0M
Human Biomarkers CoreU54NS123743 · NINDS · STANFORD UNIVERSITY · PI RAJ, TOWFIQUE · 2021 to 2025
$8.2M
Learning the Regulatory Code of Alzheimer's Disease GenomesU01AG068880 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KNOWLES, DAVID ARTHUR, RAJ, TOWFIQUE · 2020 to 2024
$5.8M
Genomic approach to identification of microglial networks involved in Alzheimer’s disease riskU01AG058635 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GOATE, ALISON M · 2018 to 2022
$4.8M
The role of peripheral myeloid cells in Alzheimers diseaseR01AG054005 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI RAJ, TOWFIQUE · 2017 to 2021
$4.1M
The Role of Myeloid Cells in Parkinson's DiseaseR01NS116006 · NINDS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Towfique Raj · 2021 to 2026
$4.0M
Modeling the impact of regulatory and splicing variants on cellular function in Alzheimer's diseaseRF1AG065926 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BRENNAND, KRISTEN JENNIFER, RAJ, TOWFIQUE · 2021 to 2021
$2.4M
COVID and Translational Science supercomputer (CATS)S10OD030463 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2021 to 2021
$2.0M
Big Omics Data Engine 2 SupercomputerS10OD026880 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2019 to 2019
$2.0M
The Role of Alternative Splicing in NeurodegenerationR56AG055824 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI RAJ, TOWFIQUE · 2019 to 2019
$804k
The impact of Alzheimer's disease susceptibility alleles on microglia transcriptomeR21AG063130 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI DE WITTE, LOTJE DOROTHEE, RAJ, TOWFIQUE · 2020 to 2020
$599k
NCATS NIH HHS UL1 TR004419NIA NIH HHS P30 AG066514NIA NIH HHS R01 AG054005NIA NIH HHS R21 AG063130NIA NIH HHS R21 AG091272NIA NIH HHS R56 AG055824NIA NIH HHS R56 AG088669NIA NIH HHS RF1 AG065926NIA NIH HHS U01 AG058635NIA NIH HHS U01 AG068880NIH HHS S10 OD026880NIH HHS S10 OD030463NINDS NIH HHS R01 NS116006NINDS NIH HHS U54 NS123743
6 · The paper itself

Abstract

Alternative splicing shapes isoform diversity and gene dosage but how genetic variation impacts splicing in brain disease is still not fully characterized. We assembled BigBrain, a multi-ancestry resource of 10,725 bulk RNA-seq profiles with matched genotypes from 4,656 individuals across 43 tissue-cohort pairs, and mapped 68,358

Identifiers

PMID41040686
PMCPMC12486005

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.