Peter M. Lansdorp

This study evaluates Parent-of-Origin-Aware genomic analysis (POAga) to improve cascade testing in pancreatic cancer families by clarifying familial risk.

The paper investigates structural variant induction in human hematopoietic stem and progenitor cells during HDR-enhanced CRISPR editing, finding that SVs occur even without DNA-PK inhibitors and increase with multiple edits.

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

The paper sequences chromosome 21 centromeres in Down syndrome families, finding extreme size asymmetry in some cases and suggesting it may be a genetic risk factor.

The paper creates a long-read benchmark for genetic variants using a large pedigree, improving variant calling performance and introducing new truth sets for tandem repeats and structural variants.

The paper uses a four-generation family to systematically assess de novo mutations and recombination, finding high mutation rates and paternal bias, along with a detailed recombination map.

The paper introduces NAHRwhals, a method to detect serial structural variations in long-read genomes, identifies 37 sSV loci in humans, and shows their relevance to disease.

The paper investigates chromatin protein deposition bias at G-quadruplex sites, finding a reciprocal association of parental and new proteins with G4 and C4 DNA strands, respectively.

This study investigates the role of G-quadruplexes in gene expression changes in BLM-deficient cells and finds they are not a major determinant.

This paper uses long-read DNA methylation sequencing and Strand-seq to detect parent-of-origin and haplotype chromosomes, achieving high accuracy in five trios.

This paper expands genome benchmarking to include difficult-to-map regions using linked and long reads, identifying more false negatives in variant calling.

The paper uses Strand-seq data to correct and construct full-length chromosomes by determining scaffold order and orientation without overlapping sequences.

This paper presents a fully phased de novo genome assembly of an individual using Strand-seq and HiFi reads, achieving high accuracy and contiguity with low switch error rates.

Sperm DNA damage leads to genomic defects in embryos through chromosome fragmentation and segregation errors.

This study compares HiFi and CLR long-read sequencing for human genome assembly, finding HiFi provides better continuity and accuracy in complex regions but not centromeres or segmental duplications.

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.

This study uses Strand-seq to show that most spontaneous sister chromatid exchanges in yeast are not caused by DNA double-strand breaks.

This paper introduces an integrative phasing strategy to generate dense and accurate whole-chromosome haplotypes using Strand-seq and long-read sequencing technologies.