Genome assembly resources of genitourinary cancers for chromosomal aberration at the single nucleotide level

Traditionally, the evolutionary perspective of cancer has been understood as gradual alterations in passenger/driver genes that lead to branching phylogeny. However, in cases of prostate adenocarcinoma and kidney renal cell carcinoma, macroevolutionary landmarks like chromoplexy and chromothripsis are frequently observed. Unfortunately, short-read sequencing techniques often miss these significant macroevolutionary changes, which involve multiple translocations and deletions at the chromosomal level. To resolve such genomic dark matters, we provided high-fidelity long-read sequencing data (78-92 Gb of ~Q30 reads) of six genitourinary tumour cell lines (one benign kidney tumour and two kidney and three prostate cancers). Based on these data, we obtained 12 high-quality, partially phased genome assemblies (Contig N50 1.85-29.01 Mb; longest contig 2.02-171.62 Mb), graph-based pan-genome variant sets (11.57 M variants including 60 K structural variants), and 5-methylcytosine sites (14.68%-27.05% of the CpG sites). We also identified several severe chromosome aberration events, which would result from chromosome break and fusion events. Our cancer genome assemblies will provide unprecedented resolution to understand cancer genome instability and chromosomal aberration.

Authors

Institutions

Publication Details

Journal
Scientific Data
Published
2025-04-01
DOI
https://doi.org/10.1038/s41597-025-04801-7
Citations
2
Primary Topic
Cancer Genomics and Diagnostics
Type
article
Field-Weighted Citation Impact
1.87

Funders

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Genome assembly resources of genitourinary cancers for chromosomal aberration at the single nucleotide level

Yeonoh Shin, Hyun Ho Han, Hyung Ho Lee, Jinsoo Chung et al.
2 citations
Scientific Data
Cancer Genomics and Diagnostics
1.87
article

Genome assembly resources of genitourinary cancers for chromosomal aberration at the single nucleotide level

Yeonoh Shin, Hyun Ho Han, Hyung Ho Lee, Jinsoo Chung, Min Kim, Jun Kim
article en
2 citations

Abstract

Traditionally, the evolutionary perspective of cancer has been understood as gradual alterations in passenger/driver genes that lead to branching phylogeny. However, in cases of prostate adenocarcinoma and kidney renal cell carcinoma, macroevolutionary landmarks like chromoplexy and chromothripsis are frequently observed. Unfortunately, short-read sequencing techniques often miss these significant macroevolutionary changes, which involve multiple translocations and deletions at the chromosomal level. To resolve such genomic dark matters, we provided high-fidelity long-read sequencing data (78-92 Gb of ~Q30 reads) of six genitourinary tumour cell lines (one benign kidney tumour and two kidney and three prostate cancers). Based on these data, we obtained 12 high-quality, partially phased genome assemblies (Contig N50 1.85-29.01 Mb; longest contig 2.02-171.62 Mb), graph-based pan-genome variant sets (11.57 M variants including 60 K structural variants), and 5-methylcytosine sites (14.68%-27.05% of the CpG sites). We also identified several severe chromosome aberration events, which would result from chromosome break and fusion events. Our cancer genome assemblies will provide unprecedented resolution to understand cancer genome instability and chromosomal aberration.

Scientific DataVol. 12(1)
Yonsei University (KR), Chungnam National University (KR), National Cancer Center (US), National Cancer Center (KR), Yonsei University Health System (KR), Korea Research Institute of Bioscience and Biotechnology (KR)
Korea Health Industry Development Institute, National Research Foundation of Korea
Good health and well-being
Openalex Percentile: Top 16%
Cancer Genomics and Diagnostics
1.87
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.