Raj Ramesar

The paper introduces BGE, a sequencing method that combines low-pass whole genome and deep whole exome data, showing high accuracy and cost-effectiveness for genetic variant discovery.

The paper identifies 267 genes reclassified as protein-coding in GRCh38 that were previously labeled as non-protein-coding in GRCh37, highlighting the impact of outdated annotations on variant prioritization and clinical diagnostics.

This study identifies genetic loci associated with amygdala nuclei volumes using UK Biobank data, finding both unique and shared genetic architectures and immune-related pathways.

The paper identifies genetic variants in South African children with developmental and epileptic encephalopathies and proposes a 'Think-Genetics' strategy for early genetic diagnosis in resource-limited settings.

This study examines genetic structure in African populations using ethnolinguistic data, finding that language classifications better capture genetic variation than geography alone.

This study shows low-coverage sequencing is more accurate and cost-effective than GWAS arrays for detecting genetic variation in diverse African populations.

The paper identifies pathogenic deep-intronic and structural variants in 26% of unsolved Stargardt disease cases using integrated genomics and transcriptomics.

This study identifies genetic overlaps between Tourette Syndrome risk and subcortical brain volumes using GWAS and pleiotropy analysis.

ITHANET is a community portal that integrates information and databases on haemoglobinopathies, providing annotated variations, epidemiological data, and diagnostic reports.