Eevi Kaasinen

A phosphorylation switch in PAGE4 drives MED12-mutant fibroid pathogenesis

The paper identifies a phosphorylation switch in PAGE4 as a key mechanism in MED12-mutant fibroid pathogenesis, revealing its role in rewiring the interactome and transcriptional machinery.

Recommendations for Bioinformatics in Clinical Practice

This paper provides consensus recommendations for standardizing bioinformatics practices in clinical whole genome sequencing to ensure accuracy, reproducibility, and comparability of results.

Sequence determinants of human gene regulatory elements

The paper identifies sequence determinants of human gene regulatory elements by analyzing transcriptional activity of long DNA sequences in three cell types, revealing distinct enhancer types and TF subtypes based on motif content and activity patterns.

Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival

This study identifies retrotransposon insertions in colorectal tumors, linking them to cancer initiation and poor patient survival.

The interaction landscape between transcription factors and the nucleosome

The paper investigates how transcription factors interact with nucleosomal DNA, finding that most have less access to it than free DNA and that nucleosome structure affects motif positioning and orientation.

ESR1, WT1, WNT4, ATM and TERT loci are major contributors to uterine leiomyoma predisposition

This study identifies five new genetic loci associated with uterine leiomyoma risk and links them to estrogen receptor alpha and genetic stability.

BasePlayer: Versatile Analysis Software For Large-Scale Genomic Variant Discovery

BasePlayer is a software tool for analyzing large-scale NGS data, enabling variant analysis, visualization, and integration of genomic data.