Evidence map›Paper›PMID 37936055›Full record

ArticleBMC genomics2023

An individualized Bayesian method for estimating genomic variants of hypertension.

Md Asad Rahman, Chunhui Cai, Na Bo, Dennis M McNamara, Ying Ding, Gregory F Cooper, Xinghua Lu, Jinling Liu

Open access · goldAbstract read
In one paragraph

Article in BMC genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact, top 76% 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

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3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 0 citations in OpenAlex.

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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

8 authors at 2 institutions in 1 country.

Md Asad RahmanDepartment of Engineering Management and Systems Engineering, Missouri University of Science and Technology, Rolla, MO, USA.
Chunhui CaiDepartment of Biomedical Informatics, University of Pittsburgh, Pittsburgh, PA, USA.
Na BoDepartment of Biostatistics, University of Pittsburgh, Pittsburgh, PA, USA.
Dennis M McNamaraDepartment of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
Ying DingDepartment of Biostatistics, University of Pittsburgh, Pittsburgh, PA, USA.
Gregory F CooperDepartment of Biomedical Informatics, University of Pittsburgh, Pittsburgh, PA, USA.
Xinghua LuDepartment of Biomedical Informatics, University of Pittsburgh, Pittsburgh, PA, USA.
Jinling LiuDepartment of Engineering Management and Systems Engineering, Missouri University of Science and Technology, Rolla, MO, USA. jinling.liu@ufl.edu.ORCID http://orcid.org/0000-0002-5001-1328
University of Pittsburgh · USMissouri University of Science and Technology · US

Funding

NHLBI Data Stage Coordinating CenterOT3HL147154 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Ashok Kumar Krishnamurthy · 2018 to 2026
$98.9M
The Integration of Trans-omics for Precision Medicine (TOPMED) and Other Heart, Lung, Blood and Sleep (HLBS) Data Sets with the Data CommonsOT3HL142481 · NHLBI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI GROSSMAN, ROBERT L., PATEN, BENEDICT · 2017 to 2020
$24.9M
The Integration of Trans-omics for Precision Medicine (TOPMED) and Other Heart, Lung, Blood and Sleep (HLBS) Data Sets with the Data CommonsOT3HL142478 · NHLBI · SEVEN BRIDGES GENOMICS, INC. · PI DAVIS-DUSENBERY, BRANDI NICOLE · 2017 to 2022
$12.6M
The Integration of Trans-omics for Precision Medicine (TOPMED) and Other Heart, Lung, Blood and Sleep (HLBS) Data Sets with the Data CommonsOT3HL142480 · NHLBI · HARVARD MEDICAL SCHOOL · PI AVILLACH, PAUL · 2017 to 2022
$8.8M
The Integration of Trans-omics for Precision Medicine (TOPMED) and Other Heart, Lung, Blood and Sleep (HLBS) Data Sets with the Data CommonsOT3HL142479 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KRISHNAMURTHY, ASHOK KUMAR · 2017 to 2020
$6.1M
Interpretable deep learning models for translational medicine RenewalR01LM012011 · NLM · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Tanner J. Freeman, XINGHUA LU · 2015 to 2026
$3.6M
Genomic Analysis of Enhanced Response to Heart Failure Therapy in African AmericaR01MD009118 · NIMHD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MCNAMARA, DENNIS M. · 2014 to 2018
$2.0M
A novel framework for estimating personalized genomic variants of hypertension for precision medicineK01HL161538 · NHLBI · UNIVERSITY OF FLORIDA · PI Jinling Liu · 2022 to 2026
$795k
THE FRAMINGHAM HEART STUDY-N01HC25195-268025195-268025195N01HC025195 · HC · TRUSTEES OF BOSTON UNIVERSITY · PI WOLF, PHILIP A · 2002 to 2006
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NHLBI NIH HHS 0065304NHLBI NIH HHS HHSN268201500001CNHLBI NIH HHS HHSN268201500001INHLBI NIH HHS K01 HL161538NHLBI NIH HHS K01HL161538NHLBI NIH HHS N01 HC025195NHLBI NIH HHS OT3 HL142478NHLBI NIH HHS OT3 HL142479NHLBI NIH HHS OT3 HL142480NHLBI NIH HHS OT3 HL142481NHLBI NIH HHS OT3 HL147154NIMHD NIH HHS R01 MD009118NLM NIH HHS R01 LM012011
6 · The paper itself

Abstract

backgroundGenomic variants of the disease are often discovered nowadays through population-based genome-wide association studies (GWAS). Identifying genomic variations potentially underlying a phenotype, such as hypertension, in an individual is important for designing personalized treatment; however, population-level models, such as GWAS, may not capture all the important, individualized factors well. In addition, GWAS typically requires a large sample size to detect the association of low-frequency genomic variants with sufficient power. Here, we report an individualized Bayesian inference (IBI) algorithm for estimating the genomic variants that influence complex traits, such as hypertension, at the level of an individual (e.g., a patient). By modeling at the level of the individual, IBI seeks to find genomic variants observed in the individual's genome that provide a strong explanation of the phenotype observed in this individual.

resultsWe applied the IBI algorithm to the data from the Framingham Heart Study to explore the genomic influences of hypertension. Among the top-ranking variants identified by IBI and GWAS, there is a significant number of shared variants (intersection); the unique variants identified only by IBI tend to have relatively lower minor allele frequency than those identified by GWAS. In addition, IBI discovered more individualized and diverse variants that explain hypertension patients better than GWAS. Furthermore, IBI found several well-known low-frequency variants as well as genes related to blood pressure that GWAS missed in the same cohort. Finally, IBI identified top-ranked variants that predicted hypertension better than GWAS, according to the area under the ROC curve.

conclusionsThe results support IBI as a promising approach for complementing GWAS, especially in detecting low-frequency genomic variants as well as learning personalized genomic variants of clinical traits and disease, such as the complex trait of hypertension, to help advance precision medicine.

Indexed as

Genome-Wide Association StudyHypertensionBayes TheoremGenomicsHumansPhenotypePolymorphism, Single NucleotideBlood pressureGenome-wide association studiesGenomic variantsHypertensionIndividualized Bayesian inferencePrecision medicineSingle nucleotide polymorphism

Identifiers

PMID37936055
PMCPMC10631115
OpenAlexW4388453564

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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.