What type of study is this?

This is a Quantitative Study study.

September 17, 2025Open Access

The complementary roles of rare variant burden scores and common variant polygenic risk scores in genetic risk prediction of complex disorders

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Authors

FMFrancesco Mazzarotto MGMassimo Gennarelli GMGraham K. Murray

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Overview

Integration of rare variant burden scores and common variant polygenic risk scores improves genetic risk prediction for schizophrenia and hypertrophic cardiomyopathy.

Key Points

Integrating rare variant burden scores with polygenic risk scores improves genetic risk prediction for complex disorders.
For schizophrenia, combining rare variant scores and common variant scores explained 1.13 times the adjusted liability compared to common variant scores alone.
Individuals with high rare variant scores had a 64% higher positive predictive value for schizophrenia compared to those with low scores.
No significant predictive improvement was observed for major depressive disorder in this analysis.

Cite This Study

Mazzarotto et al. (2025) studied this question.

synapsesocial.com/papers/68d45e4431b076d99fa5e251 https://doi.org/10.1101/2025.09.15.676308

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September 17, 2025Open Access

The complementary roles of rare variant burden scores and common variant polygenic risk scores in genetic risk prediction of complex disorders

View Full Paper

Ask AI

Bookmark

Authors

FMFrancesco Mazzarotto MGMassimo Gennarelli GMGraham K. Murray

Discussion

Member takes

Overview

Integration of rare variant burden scores and common variant polygenic risk scores improves genetic risk prediction for schizophrenia and hypertrophic cardiomyopathy.

Key Points

Integrating rare variant burden scores with polygenic risk scores improves genetic risk prediction for complex disorders.
For schizophrenia, combining rare variant scores and common variant scores explained 1.13 times the adjusted liability compared to common variant scores alone.
Individuals with high rare variant scores had a 64% higher positive predictive value for schizophrenia compared to those with low scores.
No significant predictive improvement was observed for major depressive disorder in this analysis.

Cite This Study

Mazzarotto et al. (2025) studied this question.

synapsesocial.com/papers/68d45e4431b076d99fa5e251 https://doi.org/10.1101/2025.09.15.676308

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