Raul Torres

Benchmarking of Germline Copy Number Variant Callers from Whole Genome Sequencing Data for Clinical Applications

This study benchmarks CNV callers for WGS clinical applications, finding DRAGEN v4.2 offers the best balance of sensitivity and precision for detecting deletions and some duplications.

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

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.

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

This paper classifies 176 genes on an expanded carrier screening panel into severity categories using an algorithm and maps these classifications to ACOG severity criteria.

Identifying tagging SNPs for African specific genetic variation from the African Diaspora Genome

The paper designs a genotyping array (ADPC) for African-specific genetic variation using whole genome sequences from the CAAPA consortium, improving GWAS for African ancestry populations.

Genome-wide association study of asthma in individuals of African ancestry reveals novel asthma susceptibility loci

This study identifies novel asthma susceptibility loci in individuals of African ancestry through genome-wide association analysis and admixture mapping.

Comparing multi- and single-sample variant calls to improve variant call sets from deep coverage whole-genome sequencing data

The paper improves variant call sets from deep coverage whole-genome sequencing data by comparing multi- and single-sample variant calls using a Random Forest classifier trained on genotype array data.