Mehdi Pirooznia

This study determines individualized tryptase reference ranges by modeling BST levels based on TPSAB1 copy number, showing that elevated levels can indicate clonal myeloid neoplasms or be normal in HT carriers.

The paper establishes reference samples with high-coverage whole-genome sequencing to create truth sets for somatic mutation and germline variant detection using NGS technologies.

This study evaluates reproducibility and accuracy of cancer mutation detection using whole-genome and whole-exome sequencing across multiple sequencing centers and bioinformatics pipelines.

The paper identifies autophagic and mitochondrial dysfunctions in SARS-CoV-2 infection through transcriptome profiling and network analysis of cell lines and human samples.

This study identifies the PPR domain of POLRMT as an exoribonuclease essential for mtDNA replication and transcription proofreading in Drosophila and humans.

This study evaluates somatic CNV callers using NGS data from 91 samples with varying factors, finding that caller choice and tumor purity significantly impact call quality.

The paper introduces lncRNAKB, a comprehensive knowledgebase of 77,199 human lncRNAs with expression, conservation, and cis-eQTL data from GTEx.

The paper introduces TPS, a genomic dating method for ancient genomes, which accurately dates Eurasian samples and resolves conflicts in paleogenomic data.

This study shows that disrupting mitochondrial electron transport chain (ETC) in Drosophila intestinal stem cells (ISCs) impairs their differentiation, likely through increased FOXO signaling.

This study identifies two distinct GR-regulated transcription pathways in zebrafish brains, showing synaptic activity's role in GR-mediated transcription of aplp1.

The paper shows that a JNK-insulin-Myc signaling relay activates electron transport chain biogenesis, ensuring sufficient mtDNA in Drosophila eggs and limiting deleterious mtDNA mutations.

IKAP improves identification of major cell types in single-cell RNA-seq by tuning clustering parameters to enhance differentiation between cell groups.

This paper defines ancient ancestry informative markers (aAIMs) and evaluates methods to identify them, showing a PCA-based method outperforms others in classifying ancient Eurasian populations.