Ramin Monajemi

A Comprehensive and Accessible Model for Co-Segregation Analysis in BRCA1, BRCA2, and PALB2 Variant Classification

CAL-Leiden is a co-segregation model for BRCA1, BRCA2, and PALB2 variant classification, integrating population data and cancer types to improve pathogenicity assessment.

Imbalanced expression for predicted high-impact, autosomal-dominant variants in a cohort of 3,818 healthy samples

The paper uses allele-specific expression analysis in a large cohort to identify high-impact, autosomal-dominant variants that are compensated by imbalanced expression.

RNA-Seq in 296 phased trios provides a high resolution map of genomic imprinting

The paper uses RNA-Seq data from 296 family trios to identify genomic imprinting by analyzing allelic expression and parental haplotypes, finding 45 imprinted genes and one novel imprinted transcript.