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GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia

The genetic findings indicate that mtDNA-CN is a complex biomarker reflecting specific mitochondrial processes related to mtDNA regulation and that these processes are causally related to human disease pathogenesis.
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Molecular signatures for the phylum Aquificae and its different clades: proposal for division of the phylum Aquificae into the emended order Aquificales, containing the families Aquificaceae and…

We report here detailed phylogenetic and comparative analyses on 11 sequenced genomes from the phylum Aquificae to identify molecular markers that are specific for the species from this phylum or its…
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Polygenic Contribution in Individuals With Early-Onset Coronary Artery Disease

A significant polygenic contribution in individuals presenting with EOCAD, which could be more prevalent than familial hypercholesterolemia, is suggested.
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Novel Drug Targets for Ischemic Stroke Identified Through Mendelian Randomization Analysis of the Blood Proteome.

Causal roles for five established and two novel biomarkers for ischemic stroke were identified and SCARA5 represents a promising target for treatment of cardioembolic stroke with no predicted adverse side-effects.
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Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories

The authors present RV-EXCALIBER, a method that uses large summary-level exome data to robustly calibrate rare variant burden and leverages summary- level data from a large public exome sequencing database (gnomAD) as controls and robustly calibrationRare variant burden to account for the aforementioned biases.
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Polygenic Risk Score for Alzheimer's Disease in Caribbean Hispanics

This work constructed and validated a PRS for late-onset Alzheimer's Disease (LOAD) in Caribbean Hispanics (CH) and tested the effect of ancestry on PRS by employing European and African American discovery cohorts to construct alternative PRSs, which reached lower prediction accuracy.
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Molecular signatures for the phylum Aquificae and its different clades: proposal for division of the phylum Aquificae into the emended order Aquificales, containing the families Aquificaceae and…

We report here detailed phylogenetic and comparative analyses on 11 sequenced genomes from the phylum Aquificae to identify molecular markers that are specific for the species from this phylum or its…
View on Springer (opens in a new tab)

Global Assessment of Mendelian Stroke Genetic Prevalence in 101 635 Individuals From 7 Ethnic Groups

Especially, among pathogenic clinical variants, Mendelian stroke genetic prevalence differed significantly between populations, and may serve as guides for screening and risk profiling in patients worldwide, particularly for understudied non-European populations.
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Frameshift mutation in the APOA5 gene causing hypertriglyceridemia in a Pakistani family: Management and considerations for cardiovascular risk.

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Genetics of early-onset coronary artery disease: from discovery to clinical translation.

PURPOSE OF REVIEW This review is a comprehensive update on recent discoveries on the genetics of early-onset coronary artery disease (EOCAD), and how those findings can be translated to advance its…
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