Nature Search

Mitotic clustering of pulverized chromosomes from micronuclei

The CIP2A–TOPBP1 complex tethers fragmented chromosomes from micronuclei for asymmetric mitotic inheritance, explaining distinct patterns of chromosome rearrangements in cancers and genomic disorders.

Yu-Fen Lin
Qing Hu
Peter Ly
ResearchOpen Access10 May 2023
Nature

Volume: 618, P: 1041-1048
SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing

SAVANA is a tool to detect somatic structural variants and copy number aberrations using long-read sequencing data, offering high sensitivity, specificity and compatibility with or without germline controls.

Hillary Elrick
Carolin M. Sauer
Isidro Cortes-Ciriano
ResearchOpen Access28 May 2025
Nature Methods

Volume: 22, P: 1436-1446
Non-homologous end joining shapes the genomic rearrangement landscape of chromothripsis from mitotic errors

Mitotic errors promote chromosome fragmentation and rearrangements through chromothripsis. Here, the authors identify NHEJ as the primary DSB repair pathway underlying chromothripsis and investigate the kinetics of fragment reassembly across the cell cycle.

Qing Hu
Jose Espejo Valle-Inclán
Peter Ly
ResearchOpen Access04 Jul 2024
Nature Communications

Volume: 15, P: 1-13
De novo detection of somatic mutations in high-throughput single-cell profiling data sets

SComatic identifies somatic mutations from scRNA-seq and scATAC data without a matched reference sample.

Francesc Muyas
Carolin M. Sauer
Isidro Cortés-Ciriano
ResearchOpen Access06 Jul 2023
Nature Biotechnology

Volume: 42, P: 758-767
An organoid platform for ovarian cancer captures intra- and interpatient heterogeneity

A biobank of ovarian cancer organoids recapitulates the histopathological and molecular hallmarks of patient tumors and provides a resource for preclinical research.

Oded Kopper
Chris J. de Witte
Hans Clevers
Research22 Apr 2019
Nature Medicine

Volume: 25, P: 838-849
ERα-associated translocations underlie oncogene amplifications in breast cancer

An analysis of 780 breast cancer genomes shows that focal amplifications are frequently preceded by dicentric chromosome formation from inter-chromosomal translocations associated with oestrogen receptor binding, which leads to chromosome bridge formation and breakage, initiating the amplification process.

Jake June-Koo Lee
Youngsook Lucy Jung
Peter J. Park
ResearchOpen Access17 May 2023
Nature

Volume: 618, P: 1024-1032
Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing

Fusion genes are a hallmarks of cancer, though breakpoint-position promiscuity restricts diagnostic detection. Here, the authors present FUDGE, a CRISPR-Cas9-based enrichment strategy for nanopore sequencing to identify target fusions irrespective of genomic breakpoint or fusion partner.

Christina Stangl
Sam de Blank
Glen R. Monroe
ResearchOpen Access05 Jun 2020
Nature Communications

Volume: 11, P: 1-14
Mapping and phasing of structural variation in patient genomes using nanopore sequencing

The detection of structural variants can be difficult with short-read sequencing technology, especially when variants are highly complex. Here, the authors use a MinION nanopore sequencer to analyse two patient genomes and develop NanoSV to map known and novel structural variants in long read data.

Mircea Cretu Stancu
Markus J. van Roosmalen
Wigard P. Kloosterman
ResearchOpen Access06 Nov 2017
Nature Communications

Volume: 8, P: 1-13

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