Aleksandar Milosavljevic

The paper identifies biallelic KMO variants as a novel cause of congenital NAD deficiency and shows gene x environment interactions in a mouse model.

The paper describes the Common Fund Data Ecosystem (CFDE), which integrates NIH Common Fund data resources to enable discovery, analysis, and collaboration across heterogeneous datasets.

The paper develops RPSPASS, a software tool for automated analysis of microfluidic nanoparticle data, improving accuracy, ergonomics, and reporting transparency.

The paper introduces a knowledge graph framework for integrating and querying biomedical data across domains, demonstrating its utility in eight use cases.

The paper maps MAVE data to human reference sequences to improve variant functional assay utility for genomics applications.

The paper introduces a web-based platform for building bioinformatics workflows using APIs, enabling hypothesis generation across multiple data sources.

The paper introduces the EN-TEx resource, which provides personal epigenomes and variant-impact models across multiple tissues, revealing allele-specific loci and their associations with GWAS loci.

The paper identifies a latent factor in brain RNA-seq data that reflects cell type and clinical heterogeneity, improving the identification of biological pathways and biomarkers.

The paper describes the evolution of the CIViC knowledgebase to meet the needs of the cancer variant interpretation community by expanding its functionality and data types.

This study evaluates DNA methylation deconvolution methods for cell-type proportion inference, identifies critical steps for accuracy, and develops a benchmark pipeline.