Obed A. Garcia

HLA-Resolve improves HLA typing and MHC variant detection using long-read sequencing and hybrid capture, achieving high accuracy across diverse samples.

460 haplotypes from 230 genomes, selected to maximize common-variant coverage, capture 99.43% of All of Us common small variants and halve structurally unreliable regions and base errors versus HPRC1.

The paper identifies a rapid adaptive increase in AMY1 gene copy number in Indigenous Peruvian Andeans linked to potato domestication.

The paper analyzes chromosome 22q11.2 haplotypes to show how structural variations in specific regions correlate with microdeletion and inversion risks across populations.

The paper uses long-read sequencing to identify pathogenic variants in autism cases, finding three pathogenic mutations and nine candidate structural variants missed by short-read sequencing.

The paper presents de novo genome assemblies for four Andean potato weevil species, identifying genomic regions related to insecticide resistance and host detection.