Elvisa Mehinovic

Leveraging Human Pangenome for Improved Somatic Variant Detection

This study shows that using graph-based pangenomes and inferred donor-specific assemblies improves somatic variant detection compared to GRCh38.

A Pangenomic Method for Establishing a Somatic Variant Detection Resource in HapMap Mixtures

The paper develops a pangenomic method to create a benchmark resource for somatic variant detection using HapMap mixtures, identifying millions of variants across different genomic regions.

Proteome-Wide Assessment of Clustering of Missense Variants in Neurodevelopmental Disorders Versus Cancer

The paper assesses clustering of missense variants in neurodevelopmental disorders and cancer, identifying proteins with significant variation patterns in each condition.

Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy

The paper identifies a de novo missense variant in KCNC2 in two affected siblings with autism and epilepsy using long-read sequencing, showing its potential clinical relevance.

De Novo Mutation in an Enhancer of EBF3 in simplex autism

Whole-genome sequencing in thousands of families reveals variants relevant to simplex autism in a brain enhancer of the well-established neurodevelopmental disorder gene EBF3.

ACES: Analysis of Conservation with Expansive Species

ACES is a computational workflow that queries specific sequences against multiple reference genomes to analyze conservation, generating alignment and phylogenetic data.