A Molecular Biologist, experienced in genome data analysis. Founding Palindrome in Iran, I have developed two algortihms for exome data analysis, which resolved tens of undiagnosed cases:
PalinDepth: a CNV detection tool,
PalinVar: a point based scoring system for ACMG-based classification of short variants.
Detecting common pathogenic variants by analysing thousands of exomes from distant families, I created a tool for haplotype analysis of ROH regions from exome data. This uncovers 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.

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