Evidence map›Paper›PMID 41292742›Full record

ArticlebioRxiv : the preprint server for biology2025

PRISM: ancestry-aware integration of tissue-specific genomic annotations enhances the transferability of polygenic scores.

Xiaohe Tian, Tabassum Fabiha, William F Li, Kushal K Dey, Manolis Kellis, Yosuke Tanigawa

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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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

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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

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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

6 authors.

Xiaohe TianComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.ORCID 0009-0005-5795-087X
Tabassum FabihaSloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID 0009-0008-9046-4525
William F LiComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.ORCID 0000-0001-9915-2482
Kushal K DeySloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID 0000-0002-3520-2345
Manolis KellisComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.ORCID 0000-0001-7113-9630
Yosuke TanigawaComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.ORCID 0000-0001-9759-157X

Funding

Single Cell Transcriptomic and Epigenomic Dissection of Opioid and Cocaine Responses in HIVU01DA053631 · NIDA · BROAD INSTITUTE, INC. · PI HEIMAN, MYRIAM, KELLIS, MANOLIS · 2021 to 2025
$12.6M
Mapping the vulnerable locus coeruleus pathways in aging and ADU01AG077227 · NIA · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Kwanghun Chung, Li-Huei Tsai · 2022 to 2026
$9.6M
Identification of TDP-43 Modifiers Through Single-Cell Transcriptional and Epigenomic Dissection of ALS and FTLD-MNDR01NS127187 · NINDS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI BELZIL, VERONIQUE, DONNELLY, CHRISTOPHER JAMES · 2021 to 2025
$9.1M
Epigenomic, transcriptional and cellular dissection of Alzheimer's variantsR01AG058002 · NIA · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI HYMAN, BRADLEY T., JAENISCH, RUDOLF · 2017 to 2021
$7.9M
Elucidating the Molecular Mechanisms of Neuropsychiatric Symptoms in Alzheimer's DiseaseR01AG062335 · NIA · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI KELLIS, MANOLIS, TSAI, LI-HUEI · 2018 to 2022
$6.5M
Single-cell epigenomic and trancriptional dissection of sex-specific differences in Alzheimer’s DiseaseR01AG074003 · NIA · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI KELLIS, MANOLIS, TSAI, LI-HUEI · 2021 to 2025
$5.4M
Single-cell transcriptional and epigenomic dissection of Alzheimer's Disease and Related DementiasU01NS110453 · NINDS · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI KELLIS, MANOLIS, TSAI, LI-HUEI · 2018 to 2020
$4.0M
Cell type specific epigenetic analysis to understand complex mechanisms underlying Alzheimer's disease phenotypesRF1AG054012 · NIA · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI KELLIS, MANOLIS, TSAI, LI-HUEI · 2016 to 2016
$3.9M
Single-Cell Transcriptional and Epigenomic Dissection to Identify Therapeutic Targets for ALS and FTDR01AG067151 · NIA · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI BELZIL, VERONIQUE, KELLIS, MANOLIS · 2021 to 2025
$3.7M
Dissection of endosomal trafficking mechanisms in Alzheimer's DiseaseRF1AG062377 · NIA · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI TSAI, LI-HUEI · 2018 to 2018
$3.6M
Construction of an Integrated Immune-Vascular Brain - Chip as a Platform for the Study, Drug Screening, and Treatments of Alzheimer's DiseaseUH3NS115064 · NINDS · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI BLANCHARD, JOEL WILLIAM, KELLIS, MANOLIS · 2021 to 2023
$3.5M
Single-cell multi-region transcriptional and epigenomic dissection of VCID.RF1NS129032 · NINDS · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI HEIMAN, MYRIAM, KELLIS, MANOLIS · 2022 to 2022
$3.1M
NHGRI NIH HHS R01 HG008155NIA NIH HHS R01 AG058002NIA NIH HHS R01 AG062335NIA NIH HHS R01 AG067151NIA NIH HHS R01 AG074003NIA NIH HHS R01 AG081017NIA NIH HHS R56 AG067151NIA NIH HHS RF1 AG054012NIA NIH HHS RF1 AG062377NIA NIH HHS U01 AG077227NIDA NIH HHS U01 DA053631NIMH NIH HHS R01 MH109978NIMH NIH HHS U01 MH119509NINDS NIH HHS R01 NS127187NINDS NIH HHS R01 NS129032NINDS NIH HHS RF1 NS129032NINDS NIH HHS U01 NS110453NINDS NIH HHS UG3 NS115064NINDS NIH HHS UH3 NS115064
6 · The paper itself

Abstract

The limited transferability of polygenic scores (PGS) across populations constrains their clinical utility and risks exacerbating health disparities, given challenges in multi-ancestry training, fine-mapping, and variant prioritization using genomic annotations, particularly when biologically relevant reference resources are sparse or unavailable for the target population. Here, we introduce PRISM, a transfer learning approach that jointly addresses these challenges to enhance PGS transferability. Applying PRISM to 7352 fine-mapped variants, 414 ENCODE annotations, and 406,659 individuals from the UK Biobank, we demonstrate that ancestry-aware integration of tissue-specific annotations yields the largest gains in predictive performance for African ancestry, with an average improvement of 13.10% (p=1.6×10

Identifiers

PMID41292742
PMCPMC12642535

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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.