Publications by authors named "P M De Vries"

Mosaic loss of Y (mLOY) is the most common somatic chromosomal alteration detected in human blood. The presence of mLOY is associated with altered blood cell counts and increased risk of Alzheimer disease, solid tumors, and other age-related diseases. We sought to gain a better understanding of genetic drivers and associated phenotypes of mLOY through analyses of whole-genome sequencing (WGS) of a large set of genetically diverse males from the Trans-Omics for Precision Medicine (TOPMed) program.

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Polygenic risk scores (PRSs) depend on genetic ancestry due to differences in allele frequencies between ancestral populations. This leads to implementation challenges in diverse populations. We propose a framework to calibrate PRS based on ancestral makeup.

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Background: Migratory bats perform seasonal movements between their summer and winter areas. When crossing ecological barriers, like the open sea, they are exposed to an increased mortality risk due to energetically demanding long-distance flights and unexpected inclement weather events. How such barriers affect bat migratory movements is still poorly known.

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We were busy with an early autism caregiver-coaching programme in South Africa, when COVID-19 stopped all in-person work. We changed the programme so it could be done using computers and/or phones. Here, we describe programme changes (which we call the 'what') and the reasons for those changes (which we call the 'why').

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Article Synopsis
  • The study examines the relationship between polygenic scores for coronary heart disease (CHD) and coronary artery calcium (CAC) in adults aged 75 and older, suggesting that genetic factors may influence arterial aging beyond traditional risk factors.
  • Researchers analyzed data from 1,865 participants, finding that higher polygenic CHD risk scores were associated with significantly lower odds of having no CAC and much higher odds of having high CAC levels.
  • Each standard deviation increase in the polygenic risk score corresponded to a 78% increase in CAC scores, indicating a strong link between genetic predisposition and arterial health in older adults.
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