David Porubsky

9713, Av
Groningen, GR, Netherlands

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 83 publications

HPRC2: A human pangenome reference with near-complete coverage of common genetic variation.

HPRC2: A human pangenome reference with near-complete coverage of common genetic variation.

Journal: bioRxiv : the preprint server for biology

Published: August 01, 2026

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

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

Journal: bioRxiv : the preprint server for biology

Published: June 12, 2026

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

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

Journal: bioRxiv : the preprint server for biology

Published: June 12, 2026

A global map for introgressed structural variation and selection in humans.

A global map for introgressed structural variation and selection in humans.

Journal: Science (New York, N.Y.)

Published: June 11, 2026

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

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

Journal: bioRxiv : the preprint server for biology

Published: April 10, 2026

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

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

Journal: bioRxiv : the preprint server for biology

Published: April 10, 2026

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

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

Journal: bioRxiv : the preprint server for biology

Published: March 23, 2026

NPEPPS segmental duplication drives position effect expression of TBC1D3 in the human brain.

NPEPPS segmental duplication drives position effect expression of TBC1D3 in the human brain.

Journal: bioRxiv : the preprint server for biology

Published: February 06, 2026

Human acrocentric chromosome short arm de novo mutation and recombination.

Human acrocentric chromosome short arm de novo mutation and recombination.

Journal: bioRxiv : the preprint server for biology

Published: December 25, 2025

Human acrocentric chromosome short-arm de novo mutation and recombination.

Human acrocentric chromosome short-arm de novo mutation and recombination.

Journal: Cell

Published: December 17, 2025

A complete diploid human genome benchmark for personalized genomics.

A complete diploid human genome benchmark for personalized genomics.

Journal: bioRxiv : the preprint server for biology

Published: September 26, 2025

Complete chromosome 21 centromere sequencing of families with Down syndrome.

Complete chromosome 21 centromere sequencing of families with Down syndrome.

Journal: American journal of human genetics

Published: September 23, 2025

Showing 1-12 of 83

Last Updated: 09/26/2026