Joanna Giemza

SURFBAT approximates transmission-disequilibrium tests using imputed haplotypes to detect genotype-phenotype associations while being robust to population stratification.

The paper evaluates whether using a local reference panel improves imputation accuracy in French individuals compared to a public reference panel, showing benefits of combining both approaches.

The paper analyzes genetic structure in Brittany and the Loire basin to understand Western Europe's demographic history, finding increased population differentiation linked to steppe and Neolithic ancestry.

The paper investigates how intragenic CpG islands (iCGIs) influence host gene pre-mRNA processing through transcriptional activity, showing a correlation between iCGI transcription and premature termination of host gene transcripts.

This study analyzes SNP-chip data from 2,184 French individuals to identify genetic clusters, detect gene flow barriers, and estimate population size changes, revealing historical demographic patterns.

The paper analyzes the genetic structure of modern-day Italians to reveal ancient and archaic ancestries shaping Southern European populations and Neanderthal DNA distribution.

This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.