Mohamed A. Almarri

This study uses long-read whole genome sequencing and pangenomes to identify novel variants and pathogenic findings in neurodevelopmental disorder cases from underrepresented populations.

This study benchmarks Nanopore sequencing for STR profiling using R10.4.1 flowcells and basecalling models, showing improved genotyping accuracy with newer models.

The paper identifies tissue- and isoform-level genetic regulation differences between epilepsy and SUDEP, revealing distinct cardiac and neuronal gene expression patterns.

The paper presents the first Arab Pangenome Reference using long-read and Hi-C data, revealing novel sequences and variants specific to Arab populations.

PanScan is a tool for tertiary analysis of human pangenome graphs, enabling detection of duplicated genes, novel variants, and complex genomic regions.

The paper presents whole-genome sequences from 16 Himalayan populations to study population structure, adaptation, and genetic history, revealing early population divergence, shared adaptive haplotypes, and recent gene flow.

This study analyzes ancient genomes from Bahrain to reveal population history and malaria adaptation, identifying the G6PD Mediterranean mutation's rise in frequency around 5-6 kya.

This study analyzes 137 Middle Eastern genomes to reveal population history, ancestry, and selection patterns, showing no out-of-Africa expansions but elevated Basal Eurasian ancestry in Arabians.

The paper analyzes structural variation in 911 human samples from 54 populations, identifying novel variants and introgressed elements, and highlights the need for diverse high-quality genomes.

This study presents 929 high-coverage human genome sequences from 54 populations, revealing new insights into genetic variation and population history.