The paper evaluates the diagnostic effectiveness of genomic sequencing in mitochondrial diseases using blood samples, finding a 55% diagnostic yield with higher rates in pediatric cases.

Genetics in Medicine · Sep 19, 2024Peer-reviewedGenetic & 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