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Lista de obras de 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.

artículo científico publicado en 2017

Dense and accurate whole-chromosome haplotyping of individual genomes.

artículo científico publicado en 2017

Direct chromosome-length haplotyping by single-cell sequencing.

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

The structure, function and evolution of a complete human chromosome 8

artículo científico publicado en 2021