Structural variant calling: the long and the short of it
Recent research into structural variants (SVs) has established their importance to medicine
and molecular biology, elucidating their role in various diseases, regulation of gene …
and molecular biology, elucidating their role in various diseases, regulation of gene …
Current status of structural variation studies in plants
Structural variations (SVs) including gene presence/absence variations and copy number
variations are a common feature of genomes in plants and, together with single nucleotide …
variations are a common feature of genomes in plants and, together with single nucleotide …
Mechanisms and therapeutic implications of hypermutation in gliomas
A high tumour mutational burden (hypermutation) is observed in some gliomas,,,–; however,
the mechanisms by which hypermutation develops and whether it predicts the response to …
the mechanisms by which hypermutation develops and whether it predicts the response to …
Genetic and transcriptional evolution alters cancer cell line drug response
Human cancer cell lines are the workhorse of cancer research. Although cell lines are
known to evolve in culture, the extent of the resultant genetic and transcriptional …
known to evolve in culture, the extent of the resultant genetic and transcriptional …
Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes
Diffuse large B cell lymphoma (DLBCL), the most common lymphoid malignancy in adults, is
a clinically and genetically heterogeneous disease that is further classified into …
a clinically and genetically heterogeneous disease that is further classified into …
Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly
F Zink, SN Stacey, GL Norddahl… - Blood, The Journal …, 2017 - ashpublications.org
Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is
derived from a single dominant hematopoietic stem cell lineage. Somatic mutations in …
derived from a single dominant hematopoietic stem cell lineage. Somatic mutations in …
Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software
In recent years, many software packages for identifying structural variants (SVs) using whole-
genome sequencing data have been released. When published, a new method is commonly …
genome sequencing data have been released. When published, a new method is commonly …
[HTML][HTML] Microenvironment drives cell state, plasticity, and drug response in pancreatic cancer
S Raghavan, PS Winter, AW Navia, HL Williams… - Cell, 2021 - cell.com
Prognostically relevant RNA expression states exist in pancreatic ductal adenocarcinoma
(PDAC), but our understanding of their drivers, stability, and relationship to therapeutic …
(PDAC), but our understanding of their drivers, stability, and relationship to therapeutic …
Validation of OncoPanel: a targeted next-generation sequencing assay for the detection of somatic variants in cancer
EP Garcia, A Minkovsky, Y Jia… - … of Pathology and …, 2017 - meridian.allenpress.com
Context.—The analysis of somatic mutations across multiple genes in cancer specimens
may be used to aid clinical decision making. The analytical validation of targeted next …
may be used to aid clinical decision making. The analytical validation of targeted next …
Targetable genetic features of primary testicular and primary central nervous system lymphomas
B Chapuy, MGM Roemer, C Stewart… - Blood, The Journal …, 2016 - ashpublications.org
Primary central nervous system lymphomas (PCNSLs) and primary testicular lymphomas
(PTLs) are extranodal large B-cell lymphomas (LBCLs) with inferior responses to current …
(PTLs) are extranodal large B-cell lymphomas (LBCLs) with inferior responses to current …