A survey of algorithms for the detection of genomic structural variants from long-read sequencing data
As long-read sequencing technologies are becoming increasingly popular, a number of
methods have been developed for the discovery and analysis of structural variants (SVs) …
methods have been developed for the discovery and analysis of structural variants (SVs) …
Mutational signatures in tumours induced by high and low energy radiation in Trp53 deficient mice
Ionising radiation (IR) is a recognised carcinogen responsible for cancer development in
patients previously treated using radiotherapy, and in individuals exposed as a result of …
patients previously treated using radiotherapy, and in individuals exposed as a result of …
Acinar cystic transformation of the Pancreas: Histomorphology and molecular analysis to unravel its heterogeneous nature
Acinar cystic transformation (ACT) of the pancreas, previously called acinar cell
cystadenoma, is a poorly understood and rare entity among pancreatic cystic lesions. This …
cystadenoma, is a poorly understood and rare entity among pancreatic cystic lesions. This …
Tubulocystic carcinoma of bile ducts: a distinct type of cholangiocarcinoma associated with adenofibroma-type lesions
A type of cholangiocarcinoma (CCA) characterized by peculiar histologic patterns and
underlying adenofibromatous lesions has been reported in the literature mostly as individual …
underlying adenofibromatous lesions has been reported in the literature mostly as individual …
Visualization tools for human structural variations identified by whole-genome sequencing
TT Yokoyama, M Kasahara - Journal of human genetics, 2020 - nature.com
Visualizing structural variations (SVs) is a critical step for finding associations between SVs
and human traits or diseases. Given that there are many sequencing platforms used for SV …
and human traits or diseases. Given that there are many sequencing platforms used for SV …
Detecting intragenic trans-splicing events from non-co-linearly spliced junctions by hybrid sequencing
Abstract Trans-spliced RNAs (ts-RNAs) are a type of non-co-linear (NCL) transcripts that
consist of exons in an order topologically inconsistent with the corresponding DNA template …
consist of exons in an order topologically inconsistent with the corresponding DNA template …
[HTML][HTML] Clinical and genomic characterization of pancreatic ductal adenocarcinoma with signet-ring/poorly cohesive cells
Abstract Signet-ring cell (SRC)/poorly cohesive cell carcinoma is an aggressive variant of
pancreatic ductal adenocarcinoma (PDAC). This study aimed to clarify its clinicopathologic …
pancreatic ductal adenocarcinoma (PDAC). This study aimed to clarify its clinicopathologic …
Histo-molecular characterization of pancreatic cancer with microsatellite instability: intra-tumor heterogeneity, B2M inactivation, and the importance of metastatic sites
C Luchini, A Mafficini, D Chatterjee, ML Piredda… - Virchows Archiv, 2022 - Springer
Pancreatic ductal adenocarcinoma (PDAC) with microsatellite instability (MSI)/defective
mismatch repair (dMMR) is the only subtype of pancreatic cancer with potential response to …
mismatch repair (dMMR) is the only subtype of pancreatic cancer with potential response to …
[HTML][HTML] Integrative characterization of intraductal tubulopapillary neoplasm (ITPN) of the pancreas and associated invasive adenocarcinoma
Pancreatic intraductal tubulopapillary neoplasm (ITPN) is a recently recognized intraductal
neoplasm. This study aimed to clarify the clinicopathologic and molecular features of this …
neoplasm. This study aimed to clarify the clinicopathologic and molecular features of this …
MoMI-G: modular multi-scale integrated genome graph browser
TT Yokoyama, Y Sakamoto, M Seki, Y Suzuki… - BMC …, 2019 - Springer
Background Genome graph is an emerging approach for representing structural variants on
genomes with branches. For example, representing structural variants of cancer genomes …
genomes with branches. For example, representing structural variants of cancer genomes …