Categoría: The American Journal of Human Genetics
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Benchmarking genetic birth prevalence estimates against newborn screening data
Genetics-first prediction of disease prevalence based on pathogenic variant frequencies lacks systematic validation. We benchmarked genetic models for 28 recessive disorders against newborn screening data from ∼23 million infants. Census-adjusted ances…
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Benchmarking genetic birth prevalence estimates against newborn screening data
Genetics-first prediction of disease prevalence based on pathogenic variant frequencies lacks systematic validation. We benchmarked genetic models for 28 recessive disorders against newborn screening data from ∼23 million infants. Census-adjusted ances…
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Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases
We share new resources and approaches for genome-wide analysis of tandem repeat (TR) variation. These include a method for characterizing variation clusters around TRs, a new catalog of 4.86 million TR loci, and the TRExplorer web portal, which provide…
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Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases
We share new resources and approaches for genome-wide analysis of tandem repeat (TR) variation. These include a method for characterizing variation clusters around TRs, a new catalog of 4.86 million TR loci, and the TRExplorer web portal, which provide…
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Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases
We share new resources and approaches for genome-wide analysis of tandem repeat (TR) variation. These include a method for characterizing variation clusters around TRs, a new catalog of 4.86 million TR loci, and the TRExplorer web portal, which provide…
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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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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…