List of works - David Porubsky

A draft human pangenome reference

scientific article published on 10 May 2023

Characterizing polymorphic inversions in human genomes by single-cell sequencing.

scientific article published on 29 July 2016

Copy number alterations assessed at the single-cell level revealed mono- and polyclonal seeding patterns of distant metastasis in a small cell lung cancer patient.

scientific article

Dense and accurate whole-chromosome haplotyping of individual genomes.

scientific article published on 3 November 2017

Direct chromosome-length haplotyping by single-cell sequencing.

scientific article published on 19 September 2016

Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads

scientific article published on 07 December 2020

Genome-wide mapping of sister chromatid exchange events in single yeast cells using Strand-seq

scientific article published on 12 December 2017

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

scientific article published on 10 October 2024

Increased mutation and gene conversion within human segmental duplications

scientific article published on 10 May 2023

Multi-platform discovery of haplotype-resolved structural variation in human genomes

scientific article published on 16 April 2019

Single-cell sequencing reveals karyotype heterogeneity in murine and human malignancies

scientific article (publication date: 2016)

Single-cell whole genome sequencing reveals no evidence for common aneuploidy in normal and Alzheimer's disease neurons

scientific article published on 31 May 2016

Spectrum of mutations in gastrointestinal stromal tumor patients – a population‐based study from Slovakia ⬇️

scientific article published on October 27, 2012

Strand-seq enables reliable separation of long reads by chromosome via expectation maximization.

scientific article published in July 2018

The developmental potential of iPSCs is greatly influenced by reprogramming factor selection