Paul A Lacaze

Triglyceride Polygenic Score Identifies Differential Bleeding and Cardiovascular Risk with Aspirin in Primary Prevention

This paper finds that a triglyceride-related polygenic score modifies aspirin's effects on bleeding and cardiovascular events in older adults, with different outcomes based on genetic risk profiles.

Pathogenic mitochondrial genome variation, heteroplasmy thresholding and mitochondrial constraint measures in a healthy older cohort

The paper analyzes mitochondrial DNA variation in a healthy older cohort, identifies pathogenic variants, and proposes improved heteroplasmy thresholding to reduce false positives.

Mitochondrial Disease variation in healthy older adults: a genotype-phenotype assessment linking pathogenic variants and mitochondrial constraint

The paper assesses mitochondrial disease variants and genome constraint in healthy older adults, finding no significant phenotype associations but suggesting constraint measures may relate to aging biomarkers.

A meta-analysis of genome-wide association studies identifies new genetic loci associated with all-cause and vascular dementia

This study performs a meta-analysis of GWAS to identify new genetic loci associated with all-cause and vascular dementia, revealing shared and distinct risk factors.

Whole-genome sequencing analysis of clozapine-induced myocarditis

The paper uses whole-genome sequencing to identify rare genetic variants associated with clozapine-induced myocarditis in 25 cases and 25 controls.

A polygenic risk score for coronary heart disease performs well in individuals aged 70 years and older

This study evaluates a polygenic risk score for coronary heart disease in individuals aged 70 and older, finding it improves prediction when added to conventional risk factors.

A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells

A polygenic risk score predicts mosaic loss of chromosome Y in men's blood cells, with higher scores linked to increased risk.

A step forward, but still inadequate: Australian health professionals' views on the genetics and life insurance moratorium

The paper surveys Australian health professionals' views on a genetics and life insurance moratorium, finding most believe it is inadequate and advocate for government legislation.

Genomic risk prediction for breast cancer in older women

This study evaluates a polygenic risk score for breast cancer in women aged 70 and older, finding it improves risk prediction beyond conventional factors.

Protective lipid-lowering genetic variants in healthy older individuals without coronary heart disease

The paper identifies lipid-lowering genetic variants in older adults without CHD, showing their association with lower LDL-C and reduced statin use.

Effect of APOE and a polygenic risk score on incident dementia and cognitive decline in a healthy older population

This study examines the effect of APOE genotypes and polygenic risk scores on dementia and cognitive decline in a longitudinal cohort of healthy older individuals, finding increased risks for APOE ε4 carriers and high PRS tertiles.

Impact of direct-to-consumer genetic testing on Australian clinical genetics services

The paper quantifies the impact of direct-to-consumer genetic testing on Australian clinical genetics services, finding high referral rates and low validation of DTCGT results.

Resilience to dominant genetic disease in the healthy elderly

The paper screens healthy elderly individuals to identify those resilient to genetic diseases despite high genetic risk, finding 141 individuals without associated disease despite pathogenic variants.

The Medical Genome Reference Bank: Whole genomes and phenotype of 2,570 healthy elderly

The paper introduces the Medical Genome Reference Bank, a resource of whole genome sequences and phenotypes from 2,570 healthy elderly Australians, showing fewer disease-associated variants and age-related somatic changes linked to grip strength.

The Medical Genome Reference Bank: a whole-genome data resource of 4,000 healthy elderly individuals. Rationale and cohort design

The paper introduces the Medical Genome Reference Bank (MGRB), a whole-genome dataset of 4,000 healthy elderly individuals, to serve as a reference for genetic variant analysis and healthy aging research.