Monika Čechová

The paper presents a population-scale Y chromosome reference panel with 142 assemblies, revealing structural and epigenetic variation across 180,000 years of evolution.

This study shows PRDM9 binds G-quadruplex structures, enhancing meiotic recombination by creating chromatin accessibility.

The paper assembles and characterizes 2,110 human centromeres, revealing novel haplotypes, mobile element insertions, and mutation rate variation across chromosomes.

The paper analyzes chromosome 22q11.2 haplotypes to show how structural variations in specific regions correlate with microdeletion and inversion risks across populations.

The paper uses a complete diploid human genome to study centromeric chromatin organization, revealing that DNA methylation regulates centromere structure and plasticity.

The paper uses fully phased telomere-to-telomere assemblies and long-read epigenomes to study centromere genetic and epigenetic dynamics across inheritance and cell-fate transitions, finding positional stability of CDRs and dynamic epigenetic changes.

The paper uses long-read sequencing to identify pathogenic variants in autism cases, finding three pathogenic mutations and nine candidate structural variants missed by short-read sequencing.

The paper presents T2T reference genomes from a multi-generational pedigree to study genetic and epigenetic inheritance across the complete genome.

The paper produces gapless assemblies of ape sex chromosomes for five great apes and a lesser ape, revealing divergence in Y chromosomes and evolutionary dynamics.

The paper presents the complete sequence of a human Y chromosome, correcting errors in the GRCh38 reference and adding over 30 million base pairs.

This study examines how non-B DNA motifs affect sequencing error rates across three technologies and proposes a method to estimate false-positive SNVs.

The paper develops a Hi-C data analysis pipeline to study repeat family interactions in plant genome 3D organization, finding preferential homotypic interactions among ribosomal DNA, transposons, and some LTR retrotransposons.

The paper introduces NCRF, a tool for identifying tandem repeats in noisy long-read sequencing data, showing improved performance over existing methods.

The paper uses long-read sequencing to analyze how non-B DNA structures affect DNA polymerization speed and error rates across the human genome.

RecoverY improves Y-chromosome assembly by automatically selecting Y-specific reads using k-mer abundance analysis, outperforming manual methods in simulated and real data.