I am a Molecular Biologist, experienced in genome data analysis. I founded Palindrome in Iran, developed two algortihms for exome data analysis, which resolved tens of challenging undiagnosed cases and helped hundreds of families suffring from rare disorders:
PalinDepth: a CNV detection tool from short read exome data,
PalinVar: a point-based scoring system for ACMG-based classification of SNVs and INDELs.
I also developed a tool for haplotype analysis of ROH regions from exome data. This is useful for a rare pathogenic variant that is common among distant families, aiming to investigate if such variants are founder or recurrent.
Recently I screened hundreds of exomes for STR expansions in neuromuscular patients with different ethnicities. Creating a reference panel of STR loci is my ongoing project. I am also working on GWAS on dementia and neurodegenerative diseases.

Selected Publications

Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients
Parkinsonism & Related Disorders; 2024 article

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease
Clinical Genetics; 2022 article

A novel carcinogenic PI3Kα mutation suggesting the role of helical domain in transmitting nSH2 regulatory signals to kinase domain
Life Sciences; 2021 article