Mark Pinese

AEon estimates global genetic ancestry from VCF/BCF files, offering faster and more accurate results than ADMIXTURE with built-in reference populations and visualization tools.

mity detects low heteroplasmy mitochondrial variants in whole genome sequencing data, improving diagnostic rates for mitochondrial diseases.

ClinSV detects structural and copy number variants from whole genome sequencing data with high sensitivity and low false positive rates, outperforming clinical microarrays in identifying reportable variants.

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 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.

EPICC clusters cancer patients using DNA mutation profiles and protein interactions, identifying new cross-tissue cancer groups and protein modules.

blkbox integrates nine machine learning algorithms to identify disease biomarkers by selecting the best classifier for a dataset, offering feature selection and visualization without parameter optimization.