Etiqueta: AmJHumGenet
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A flexible and unified framework for single- and multi-outcome Mendelian randomization using summary statistics
Mapping causal genes from molecular QTL data remains challenging due to limited instruments. Kang et al. introduce FusioMR, a Bayesian Mendelian randomization framework that leverages gene-region-specific information and supports multi-outcome analyses…
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A flexible and unified framework for single- and multi-outcome Mendelian randomization using summary statistics
Mapping causal genes from molecular QTL data remains challenging due to limited instruments. Kang et al. introduce FusioMR, a Bayesian Mendelian randomization framework that leverages gene-region-specific information and supports multi-outcome analyses…
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Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probands
LFSPRO is a mathematical model used to identify individuals with TP53 germline mutations, supporting the clinical management of Li-Fraumeni syndrome. It outperforms standard criteria in a genetic counseling concurring cohort at MD Anderson Cancer Cente…
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Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probands
LFSPRO is a mathematical model used to identify individuals with TP53 germline mutations, supporting the clinical management of Li-Fraumeni syndrome. It outperforms standard criteria in a genetic counseling concurring cohort at MD Anderson Cancer Cente…
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Putting polygenic scores in context: How intersectional factors affect relative and absolute genetic risk
Intersecting sociodemographic contexts meaningfully reshape genetic risk. Across 106 two-way intersections, polygenic scores showed substantial shifts in relative risk for seven diseases, whereas absolute risk changed more modestly after accounting for…
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Putting polygenic scores in context: How intersectional factors affect relative and absolute genetic risk
Intersecting sociodemographic contexts meaningfully reshape genetic risk. Across 106 two-way intersections, polygenic scores showed substantial shifts in relative risk for seven diseases, whereas absolute risk changed more modestly after accounting for…
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PACells identifies phenotype-associated cell states from single-cell chromatin accessibility profiles
PACells is an analysis framework for identifying cell states associated with clinical phenotype by integrating bulk and single-cell chromatin accessibility profiles. It flexibly adapts to various phenotype types. PACells reveals clinically significant …
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Integrating genetic data with biological insight: A practical guide to cis-Mendelian randomization
In recent years, the popularity of using cis-Mendelian randomization to assess causal mechanisms has increased due to the availability of genetic association data for molecular quantitative traits. In this review, Karhunen et al. discuss the key consid…
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PACells identifies phenotype-associated cell states from single-cell chromatin accessibility profiles
PACells is an analysis framework for identifying cell states associated with clinical phenotype by integrating bulk and single-cell chromatin accessibility profiles. It flexibly adapts to various phenotype types. PACells reveals clinically significant …
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Integrating genetic data with biological insight: A practical guide to cis-Mendelian randomization
In recent years, the popularity of using cis-Mendelian randomization to assess causal mechanisms has increased due to the availability of genetic association data for molecular quantitative traits. In this review, Karhunen et al. discuss the key consid…