Douglas P. Loesch

The paper identifies plasma proteomic markers linked to polygenic risk of type 2 diabetes and related comorbidities using proteogenomic data from biobanks and clinical trials.

This study compares clonal haematopoiesis (CH) between admixed Americans and Europeans, finding ancestry-specific genetic factors and lower CH prevalence in admixed populations.

The paper conducts an X-chromosome association study in Latin American cohorts, identifying new loci linked to Parkinson Disease and replicating previous findings.

The paper performs whole genome sequence association analysis of fasting glucose and insulin levels in diverse cohorts, identifying 22 significant variants across 16 gene regions, including rare variants.

The paper constructs and validates a polygenic risk score for Parkinson's disease in a Latino cohort, finding ancestry-related biases and haplotype associations at the SNCA locus.

This study conducts the first GWAS of Parkinson's disease in Latinos, identifies SNCA as significant, and finds genetic overlap with Europeans.

Over 400 million variants, 97% below 1% frequency, emerge from deep whole-genome sequencing of 53,831 diverse TOPMed participants; TOPMed haplotypes enable imputation down to ~0.01% frequency.

The paper identifies rare non-coding variants from whole genome sequencing in the TOPMed program, showing they contribute significantly to type 2 diabetes heritability.

The paper analyzes copy number variants in Latin American Parkinson's disease patients and finds enrichment of variants overlapping known Parkinson's genes, particularly PARK2, associated with early-onset disease.

The paper analyzes de novo mutations in 1,465 genomes to show similar mutation rates across ancestries but reduced rates in the Amish population, with environmental factors possibly influencing mutation rates.