Nature Search

Origins of chromosome instability unveiled by coupled imaging and genomics

Coupling live-cell imaging, machine learning and genomic sequencing, the MAGIC platform enables investigation of the cellular context, mutation rates and triggers of spontaneous chromosomal abnormality formation, shedding light on fundamental determinants of chromosomal instability.

Marco Raffaele Cosenza
Alice Gaiatto
Jan O. Korbel
ResearchOpen Access29 Oct 2025
Nature

Volume: 648, P: 383-393
Complex genetic variation in nearly complete human genomes

Using sequencing and haplotype-resolved assembly of 65 diverse human genomes, complex regions including the major histocompatibility complex and centromeres are analysed.

Glennis A. Logsdon
Peter Ebert
Tobias Marschall
ResearchOpen Access23 Jul 2025
Nature

Volume: 644, P: 430-441
Assembly of 43 human Y chromosomes reveals extensive complexity and variation

De novo assemblies of 43 Y chromosomes spanning 182,900 years of human evolution reveal considerable diversity in the size and structure of the human Y chromosome.

Pille Hallast
Peter Ebert
Charles Lee
Research23 Aug 2023
Nature

Volume: 621, P: 355-364
Author Correction: Complex genetic variation in nearly complete human genomes

Glennis A. Logsdon
Peter Ebert
Tobias Marschall
Amendments and CorrectionsOpen Access26 Aug 2025
Nature

Volume: 645, P: E6
Single-cell multiomics analysis reveals dynamic clonal evolution and targetable phenotypes in acute myeloid leukemia with complex karyotype

An integrated single-cell multiomic analysis of complex karyotype acute myeloid leukemia characterizes intratumoral heterogeneity and highlights links to therapeutic sensitivities.

Aino-Maija Leppä
Karen Grimes
Andreas Trumpp
ResearchOpen Access25 Nov 2024
Nature Genetics

Volume: 56, P: 2790-2803
Semi-automated assembly of high-quality diploid human reference genomes

Which combination of current genome sequencing and assembly approaches results in high-quality, complete diploid genome assemblies is determined.

Erich D. Jarvis
Giulio Formenti
Karen H. Miga
ResearchOpen Access19 Oct 2022
Nature

Volume: 611, P: 519-531
Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells

This study uses Strand-seq to explore the landscape of mosaic structural variants (mSVs) in human hematopoietic stem and progenitor cells from people of different ages. The analysis highlights patterns of enrichment for mSVs in specific cell types, with associated phenotypes, and suggests that clonal expansions due to mSVs are generally restricted to older individuals.

Karen Grimes
Hyobin Jeong
Jan O. Korbel
ResearchOpen Access28 May 2024
Nature Genetics

Volume: 56, P: 1134-1146
Functional analysis of structural variants in single cells using Strand-seq

Linking structural variants to gene expression information identifies aberrant signaling pathways.

Hyobin Jeong
Karen Grimes
Jan O. Korbel
ResearchOpen Access24 Nov 2022
Nature Biotechnology

Volume: 41, P: 832-844
Impact and characterization of serial structural variations across humans and great apes

Structural variants (SV) can accumulate in repeat-rich parts of the genome and transform them in unexpected ways. Here, with their new assembly-based genotyper (NAHRwhals), the authors verify multi-step SVs in 37 human loci and identify alleles at risk for copy-number variation.

Wolfram Höps
Tobias Rausch
Fritz J. Sedlazeck
ResearchOpen Access13 Sept 2024
Nature Communications

Volume: 15, P: 1-15

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