Cargando…

Development of a clinical polygenic risk score assay and reporting workflow

Implementation of polygenic risk scores (PRS) may improve disease prevention and management but poses several challenges: the construction of clinically valid assays, interpretation for individual patients, and the development of clinical workflows and resources to support their use in patient care....

Descripción completa

Detalles Bibliográficos
Autores principales:	Hao, Limin, Kraft, Peter, Berriz, Gabriel F., Hynes, Elizabeth D., Koch, Christopher, Korategere V Kumar, Prathik, Parpattedar, Shruti S., Steeves, Marcie, Yu, Wanfeng, Antwi, Ashley A., Brunette, Charles A., Danowski, Morgan, Gala, Manish K., Green, Robert C., Jones, Natalie E., Lewis, Anna C. F., Lubitz, Steven A., Natarajan, Pradeep, Vassy, Jason L., Lebo, Matthew S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group US 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9117136/ https://www.ncbi.nlm.nih.gov/pubmed/35437332 http://dx.doi.org/10.1038/s41591-022-01767-6

Ejemplares similares

A Cost–Consequence Analysis of Preemptive SLCO1B1 Testing for Statin Myopathy Risk Compared to Usual Care
por: Brunette, Charles A., et al.
Publicado: (2021)

Polygenic risk scores in the clinic: Translating risk into action
por: Lewis, Anna C.F., et al.
Publicado: (2021)

Patient and provider perspectives on polygenic risk scores: implications for clinical reporting and utilization
por: Lewis, Anna C. F., et al.
Publicado: (2022)

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
por: Khera, Amit V., et al.
Publicado: (2018)

The Synergizer service for translating gene, protein and other biological identifiers
por: Berriz, Gabriel F., et al.
Publicado: (2008)

Response to Comment on Vassy et al. Polygenic Type 2 Diabetes Prediction at the Limit of Common Variant Detection. Diabetes 2014;63:2172–2182
por: Vassy, Jason L., et al.
Publicado: (2014)

Polygenic Type 2 Diabetes Prediction at the Limit of Common Variant Detection
por: Vassy, Jason L., et al.
Publicado: (2014)

A Polygenic Approach to the Study  of Polygenic Diseases
por: Lvovs, D., et al.
Publicado: (2012)

Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine
por: Tsai, Ellen A., et al.
Publicado: (2016)

Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences
por: Rosenberg, Noah A, et al.
Publicado: (2018)

Harmonizing variant classification for return of results in the All of Us Research Program
por: Harrison, Steven M., et al.
Publicado: (2021)

Evaluation of a Multiethnic Polygenic Risk Score Model for Prostate Cancer
por: Plym, Anna, et al.
Publicado: (2021)

Somatic mutational profiles and germline polygenic risk scores in human cancer
por: Liu, Yuxi, et al.
Publicado: (2022)

Personalizing Breast Cancer Screening Based on Polygenic Risk and Family History
por: van den Broek, Jeroen J, et al.
Publicado: (2020)

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
por: Fahed, Akl C., et al.
Publicado: (2020)

Erratum. Polygenic Type 2 Diabetes Prediction at the Limit of Common Variant Detection. Diabetes 2014;63:2172–2182
por: Vassy, Jason L., et al.
Publicado: (2018)

Polygenic Risk Scores and the Need for Pharmacotherapy in Neonatal Abstinence Syndrome
por: Bibi, Shawana, et al.
Publicado: (2023)

Polygenic Epidemiology
por: Dudbridge, Frank
Publicado: (2016)

Polygenic dissection of the bipolar phenotype
por: Hamshere, M. L., et al.
Publicado: (2011)

PRSice: Polygenic Risk Score software
por: Euesden, Jack, et al.
Publicado: (2015)

Potential use of clinical polygenic risk scores in psychiatry – ethical implications and communicating high polygenic risk
por: Palk, A. C., et al.
Publicado: (2019)

Pragmatic Trials in Genomic Medicine: The Integrating Pharmacogenetics In Clinical Care (I‐PICC) Study
por: Brunette, Charles A., et al.
Publicado: (2019)

Clinical utility of polygenic scores for cardiometabolic disease in Arabs
por: Shim, Injeong, et al.
Publicado: (2023)

Genome-wide functional analysis of human 5' untranslated region introns
por: Cenik, Can, et al.
Publicado: (2010)

Understanding polygenic models, their development and the potential application of polygenic scores in healthcare
por: Babb de Villiers, Chantal, et al.
Publicado: (2020)

A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin
por: Leal, Luis G., et al.
Publicado: (2020)

Multi-PGS enhances polygenic prediction by combining 937 polygenic scores
por: Albiñana, Clara, et al.
Publicado: (2023)

Scientific workflows for bibliometrics
por: Guler, Arzu Tugce, et al.
Publicado: (2016)

Multiplex melanoma families are enriched for polygenic risk
por: Law, Matthew H, et al.
Publicado: (2020)

Integrative polygenic risk score improves the prediction accuracy of complex traits and diseases
por: Truong, Buu, et al.
Publicado: (2023)

Polygenic risk scores and rheumatic diseases
por: Brown, Matthew A., et al.
Publicado: (2021)

Comparing Within- and Between-Family Polygenic Score Prediction
por: Selzam, Saskia, et al.
Publicado: (2019)

Headaches and polygenic scores
por: Vilhjálmsson, Bjarni J., et al.
Publicado: (2019)

Polygenic transcriptome risk scores (PTRS) can improve portability of polygenic risk scores across ancestries
por: Liang, Yanyu, et al.
Publicado: (2022)

Workflows in bioinformatics: meta-analysis and prototype implementation of a workflow generator
por: Garcia Castro, Alexander, et al.
Publicado: (2005)

Authors’ attitude toward adopting a new workflow to improve the computability of phenotype publications
por: Cui, Hong, et al.
Publicado: (2022)

Polygenicity of Comorbid Depression in Multiple Sclerosis
por: Kowalec, Kaarina, et al.
Publicado: (2023)

Impact of polygenic schizophrenia-related risk and hippocampal volumes on the onset of psychosis
por: Harrisberger, F, et al.
Publicado: (2016)

Polygenic Risk Scores for cancer mortality prediction
por: Sciurti, A, et al.
Publicado: (2023)

Efficacy of Evolocumab in Monogenic vs Polygenic Hypercholesterolemia
por: Lee, Timothy, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_akscltscpd6jtppuu7v15lm87u