Meutia Ayuputeri Kumaheri

SVlog: a logic programming framework for understanding structural variation in genomic disease

SVlog provides a logic programming framework for analyzing structural variants in genomic disease by applying deterministic rules to genomic data and annotations.

A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Disease

The paper identifies a common intronic SVA_E insertion in ASPA as the most frequent pathogenic variant in Canavan disease using long-read sequencing.

Development and validation of a pharmacogenomics reporting workflow based on the Illumina Global Screening Array chip

The paper validates a pharmacogenomics reporting workflow using the Illumina Global Screening Array for 25 genes, showing high accuracy and reproducibility across multiple reference datasets.

The landscape of genomic structural variation in Indigenous Australians

This study profiles genomic structural variation in Indigenous Australians using whole genome long-read sequencing, revealing abundant and previously unannotated variants and unique STR diversity.