The paper identifies 16 genetic loci interacting with sleep duration to influence glycemic traits in over 480,000 individuals, revealing distinct biological mechanisms for short and long sleep.

Diabetes · Oct 29, 2026Peer-reviewedGenetic & Genomic Medicine

Whole-genome sequencing analysis of clozapine-induced myocarditis

Ankita Narang, Paul A Lacaze, Kathlyn J. Ronaldson, John J. McNeil, Mahesh Jayaram, Naveen Thomas, Rory Sellmer, David Neil Crockford, Robert Stowe, Steven C. Greenway, Christos Pantelis, Chad Bousman

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

The Pharmacogenomics Journal · Apr 23, 2022Peer-reviewedGenetic & Genomic Medicine

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

Moeen Riaz, Jonas Mattisson, Galina Polekhina, Andrew Bakshi, Jonatan Halvardson, Marcus Danielsson, Adam Ameur, John J. McNeil, Lars Anders Forsberg, Paul A Lacaze

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

Cell & Bioscience · Dec 12, 2021Peer-reviewedGenetic & Genomic Medicine

Genomic risk prediction for breast cancer in older women

Paul A Lacaze, Andrew Bakshi, Moeen Riaz, Suzanne Gaye Orchard, Jane M. Tiller, Franz–Josef Neumann, Prudence R. Carr, Amit D. Joshi, Yin Cao, Erica T. Warner, Alisa Knodle Manning, Tú Nguyen‐Dumont, Melissa C. Southey, Roger Laughlin Milne, Leslie G. Ford, , John J. McNeil

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

Cancers · Jul 14, 2021Peer-reviewedGenetic & Genomic Medicine

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

Paul A Lacaze, Moeen Riaz, Robert Sebra, Amanda J. Hooper, Jing Pang, Jane M. Tiller, Galina Polekhina, Andrew Maxwell Tonkin, Christopher Michael Reid, Sophia Zoungas, Anne M. Murray, Stephen James Nicholls, Gerald Francis Watts, Eric E. Schadt, John J. McNeil

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

Open Heart · Jul 1, 2021Peer-reviewedGenetic & Genomic Medicine

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

Moeen Riaz, Aamira J. Huq, Joanne L. Ryan, Suzanne Gaye Orchard, Jane M. Tiller, Jessica E. Lockery, Robyn L. Woods, Rory S Wolfe, Alan Edward Renton, Alison Goate, Robert Sebra, Eric E. Schadt, Amy G. Brodtmann, Raj C. Shah, Elsdon Storey, , Paul A Lacaze

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.

Aging Cell · May 26, 2021Peer-reviewedGenetic & Genomic Medicine

Resilience to dominant genetic disease in the healthy elderly

Paul A Lacaze, Robert Sebra, Moeen Riaz, Jane M. Tiller, Jerico Revote, James Phung, Emily J Parker, Suzanne Gaye Orchard, Jessica E. Lockery, Rory S Wolfe, Maya Strahl, Ying C. Wang, Rong Chen, Daniel Sisco, Todd Arnold, , Eric Schadt

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.

medRxiv · Oct 22, 2019 · PreprintGenetic & Genomic Medicine

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

Mark Pinese, Paul A Lacaze, Emma M. Rath, Andrew M. Stone, Marie‐Jo Brion, Adam Ameur, Sini Nagpal, Clare Puttick, Shane Husson, Dmitry Degrave, Tina Navin Cristina, Vivian Francília Silva Kahl, Aaron L. Statham, Robyn L. Woods, John J. McNeil, , David Morgan Thomas

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.

bioRxiv · Nov 18, 2018 · PreprintGenomics

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

Paul A Lacaze, Mark Pinese, Warren H. Kaplan, Andrew M. Stone, Marie‐Jo Brion, Robyn L. Woods, Martin McNamara, John J. McNeil, Marcel E. Dinger, David Morgan Thomas

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.

European Journal of Human Genetics · Oct 12, 2018Peer-reviewedGenomics