Rodrigo Guarischi‐Sousa

This study identifies plasma proteomic signatures that modestly improve prediction of incident type 2 diabetes compared to clinical and genetic factors.

This paper develops a plasma proteomic signature for predicting atherosclerotic cardiovascular disease risk using UK Biobank data and finds it modestly improves prediction over clinical and genetic factors.

The paper develops criteria for identifying, sharing, and reporting novel candidate genes in clinical genomic testing to improve diagnostic yield for Mendelian conditions.

This study validates low-pass whole genome sequencing as a reliable and cost-effective method for detecting copy number variants in clinical settings.

HRD-One provides a reproducible HRD score with high concordance to myChoice(R) and identifies HRD in ovarian cancer samples with and without BRCA1/2 mutations.

This study analyzes chromosomal microarray data from 5,778 Brazilian patients with neurodevelopmental disorders and congenital anomalies to assess genetic bases and evaluate cost-effectiveness of variant analysis.