Mohammad Amiruddin Hashmi

GBZ-base and GAF-base: Indexed pangenome file formats

The paper introduces GBZ-base and GAF-base, indexed pangenome file formats for efficient subgraph and alignment extraction.

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.

The paper analyzes chromosome 22q11.2 haplotypes to show how structural variations in specific regions correlate with microdeletion and inversion risks across populations.

Lung microvascular rarefaction impairs pulmonary gas exchange and exacerbates heart failure with preserved ejection fraction

This study identifies pulmonary microvascular rarefaction as a novel mechanism in heart failure, linking it to impaired gas exchange and worsened cardiac function.

Pangenome discovery of missing autism variants

The paper uses long-read sequencing to identify pathogenic variants in autism cases, finding three pathogenic mutations and nine candidate structural variants missed by short-read sequencing.

PanScan: A Tool for Tertiary Analysis of Human Pangenome Graphs

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