Publications by authors named "J C Bis"
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.
View Article and Find Full Text PDFPolygenic 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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- A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
- The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
- While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
Article Synopsis
- Researchers studied plasma proteomic profiles linked to subclinical mutations in blood cells, particularly focusing on clonal hematopoiesis of indeterminate potential (CHIP) and its connection to various health outcomes, including coronary artery disease (CAD).
- The study involved a large, diverse group of participants and identified a significant number of unique proteins associated with key driver genes, showing differences based on genetics, sex, and race.
- Methods like Mendelian randomization and mouse model tests helped clarify the causal effects of these proteins, revealing shared plasma proteins between CHIP and CAD that could inform future clinical insights.
Article Synopsis
- Subcortical brain structures play a crucial role in various developmental and psychiatric disorders, and a study analyzed brain volumes in 74,898 individuals, identifying 254 genetic loci linked to these volumes, which accounted for up to 35% of variation.
- The research included exploring gene expression in specific neural cell types, focusing on genes involved in intracellular signaling and processes related to brain aging.
- The findings suggest that certain genetic variants not only influence brain volume but also have potential causal links to conditions like Parkinson’s disease and ADHD, highlighting the genetic basis for risks associated with neuropsychiatric disorders.