Fanny‐Dhelia Pajuste

Limited overlap between genetic effects on disease susceptibility and disease survival

The paper compares genetic effects on disease susceptibility and progression, finding limited overlap and suggesting larger samples or different progression measures are needed.

Parent-of-Origin inference and its role in the genetic architecture of complex traits: evidence from ~265,000 individuals

The paper infers parent-of-origin effects in ~265,000 individuals using a novel method, identifying over 30 novel POEs and confirming known associations, supporting the parental conflict hypothesis.

Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events

This study shows that epilepsy polygenic risk scores (PRSs) can predict epilepsy risk across lifetimes and after seizure events in a large Finnish cohort.

GeneToCN: An Alignment-Free Method for Gene Copy Number Estimation Directly from Next-Generation Sequencing Reads

GeneToCN estimates gene copy numbers from NGS reads using gene-specific k-mer frequencies, showing strong correlation with experimental data across multiple genes and sequencing technologies.

Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection

This study identifies genetic drivers and cellular selection signatures of mosaic X chromosome loss in women using large-scale population data and polygenic scores.

KATK: fast genotyping of rare variants directly from unmapped sequencing reads

KATK is a tool for variant calling from raw sequencing reads, achieving low false negative and discovery rates while avoiding bias against rare variants.

AluMine: alignment-free method for the discovery of polymorphic Alu element insertions

AluMine identifies polymorphic Alu element insertions in personal genomes using alignment-free methods, achieving high genotype concordance.

FastGT: an alignment-free method for calling common SNVs directly from raw sequencing reads

FastGT calls common SNVs from raw sequencing reads using k-mer frequency analysis, achieving high concordance with reference genotypes.