David Porubsky

United States

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Articles (17)

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2025

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2020

Collaborators (19)

Richard Green

Associate Professor

University of California, Santa Cruz

UNITED STATES

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Claudia Rita Catacchio

University of Bari

ITALY

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Christine Beck

Assistant Professor

UNITED STATES

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Arvis Sulovari

Principal Scientist

UNITED STATES

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Beat Bornhauser

University Children's Hospital Zurich

SWITZERLAND

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Glenn Hickey

UNITED STATES

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Mario Ventura

Full professor

University of Bari Aldo Moro

ITALY

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Evan Eichler

Howard Hughes Medical Institute

UNITED STATES

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Peter Lansdorp

Professor

The University of British Columbia

CANADA

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Sophie A Herbst

Massachusetts Institute of Technology

UNITED STATES

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Sarah Hunt

EMBL-European Bioinformatics Institute

UNITED KINGDOM

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Brian Walenz

National Institutes of Health

UNITED STATES

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Jana Ebler

Heinrich Heine University Düsseldorf

GERMANY

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Jonathan Wood

Wellcome Sanger Institute

UNITED KINGDOM

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Matthew Mitchell

Assistant Professor

Coriell Institute For Medical Research

UNITED STATES

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Francesca Antonacci

University of Bari Aldo Moro

ITALY

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Haoyu Cheng

Assistant Professor

Yale University

UNITED STATES

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Tobias Marschall

Heinrich Heine University Düsseldorf

GERMANY

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Harriet Dashnow

Assistant Professor

University of Colorado Anschutz Medical Campus

UNITED STATES

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David Porubsky

Research Interests

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Articles (17)

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

Complex genetic variation in nearly complete human genomes.

Author Correction: Complex genetic variation in nearly complete human genomes

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

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

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

Independent expansion, selection, and hypervariability of theTBC1D3gene family in humans

The variation and evolution of complete human centromeres

Gaps and complex structurally variant loci in phased genome assemblies

Telomere-to-telomere assembly of diploid chromosomes with Verkko

Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall

Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus

Functional analysis of structural variants in single cells using Strand-seq.

Semi-automated assembly of high-quality diploid human reference genomes

A high-quality bonobo genome refines the analysis of hominid evolution

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

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

Collaborators (19)

Richard Green

Claudia Rita Catacchio

Christine Beck

Arvis Sulovari

Beat Bornhauser

Glenn Hickey

Mario Ventura

Evan Eichler

Peter Lansdorp

Sophie A Herbst

Sarah Hunt

Brian Walenz

Jana Ebler

Jonathan Wood

Matthew Mitchell

Francesca Antonacci

Haoyu Cheng

Tobias Marschall

Harriet Dashnow

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