David Porubskỳ

Career Trajectory

Research Cluster Map

Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.

• Population-scale Y chromosome assemblies reveal recurrent remodeling within constrained architectures

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-06-06

• Complete chromosome 21 centromere sequencing of families with Down syndrome

  The American Journal of Human Genetics · 2026-06-01

• Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion

  Nature Communications · 2026-04-18

• A family portrait of the genomic factors shaping tandem repeat mutagenesis

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-03-09 · 1 citations

• Distinct mechanisms of CNV formation at the human 15q13.3 locus

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-03-05 · 1 citations

• <i>NPEPPS</i> segmental duplication drives position effect expression of <i>TBC1D3</i> in the human brain

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-01-15

• Human acrocentric chromosome short arm <i>de novo</i> mutation and recombination

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-12-17 · 2 citations

• Structural and transduction patterns of human-specific polymorphic SVA insertions

  Mobile DNA · 2025-11-06 · 1 citations

• A complete diploid human genome benchmark for personalized genomicsPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-09-21 · 21 citations

• Author Correction: Complex genetic variation in nearly complete human genomes

  Nature · 2025-08-26 · 2 citations

• The Platinum Pedigree: a long-read benchmark for genetic variants

  Nature Methods · 2025-08-01 · 13 citations

• Complex genetic variation in nearly complete human genomes

  Nature · 2025-07-23 · 80 citations

• Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversionPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-07-05 · 2 citations

• Population differences of chromosome 22q11.2 duplication structure predisposes differentially to microdeletion and inversion.

  Zenodo (CERN European Organization for Nuclear Research) · 2025-07-02

• A global map for introgressed structural variation and selection in humansPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-06-24 · 5 citations

• SVbyEye: a visual tool to characterize structural variation among whole-genome assemblies

  Bioinformatics · 2025-06-01 · 30 citations

• Human de novo mutation rates from a four-generation pedigree reference

  Nature · 2025-04-23 · 81 citations

• Complete sequencing of ape genomes

  Nature · 2025-04-09 · 127 citations

• Graphasing: phasing diploid genome assembly graphs with single-cell strand sequencing

  Genome biology · 2024-10-10 · 11 citations

• Complex genetic variation in nearly complete human genomesPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2024-09-25 · 27 citations