Peter J. Campbell
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View article: Complex de novo structural variants are an underestimated cause of rare disorders
Complex de novo structural variants are an underestimated cause of rare disorders Open
Complex de novo structural variants (dnSVs) are crucial genetic factors in rare disorders, yet their prevalence and characteristics in rare disorders remain poorly understood. Here, we conduct a comprehensive analysis of whole-genome seque…
View article: Somatic <i>TYK2</i> activating mutations in tumor-infiltrating T cells promote anti-cancer immunity
Somatic <i>TYK2</i> activating mutations in tumor-infiltrating T cells promote anti-cancer immunity Open
Cancer cells evolve to increase fitness and evade the immune system, but it is not clear if tumor infiltrating lymphocytes (TILs) undergo selection for somatic mutations that augment anti-cancer immunity. Using single molecule whole exome …
View article: DNMT3A-R882 mutations intrinsically drive dysfunctional neutropoiesis from human haematopoietic stem cells
DNMT3A-R882 mutations intrinsically drive dysfunctional neutropoiesis from human haematopoietic stem cells Open
Clonal haematopoiesis (CH) arises from the expansion of hematopoietic stem cells (HSCs) carrying leukaemia-associated somatic mutations. CH is linked to pathological immune dysregulation and a greater risk of age-related inflammatory disea…
View article: Sperm sequencing reveals extensive positive selection in the male germline
Sperm sequencing reveals extensive positive selection in the male germline Open
View article: Somatic mutation and selection at population scale
Somatic mutation and selection at population scale Open
View article: Author Correction: Clonal dynamics and somatic evolution of haematopoiesis in mouse
Author Correction: Clonal dynamics and somatic evolution of haematopoiesis in mouse Open
View article: Author Correction: The long-term effects of chemotherapy on normal blood cells
Author Correction: The long-term effects of chemotherapy on normal blood cells Open
View article: The long-term effects of chemotherapy on normal blood cells
The long-term effects of chemotherapy on normal blood cells Open
View article: The earliest stages of neoplastic transformation in Familial Adenomatous Polyposis
The earliest stages of neoplastic transformation in Familial Adenomatous Polyposis Open
The succession of somatic genetic events associated with the conversion of a normal colorectal epithelial cell into a colorectal carcinoma constitutes a paradigmatic model of cancer development. Familial Adenomatous Polyposis (FAP) is caus…
View article: Aberrant basal cell clonal dynamics shape early lung carcinogenesis
Aberrant basal cell clonal dynamics shape early lung carcinogenesis Open
Preinvasive squamous lung lesions are precursors of lung squamous cell carcinoma (LUSC). The cellular events underlying lesion formation are unknown. Using a carcinogen-induced model of LUSC with no added genetic hits or cell type bias, we…
View article: Timing and trajectory of BCR::ABL1-driven chronic myeloid leukaemia
Timing and trajectory of BCR::ABL1-driven chronic myeloid leukaemia Open
Mutation of some genes drives uncontrolled cell proliferation and cancer. The Philadelphia chromosome in chronic myeloid leukaemia (CML) provided the very first such genetic link to cancer 1,2 . However, little is known about the trajector…
View article: The somatic mutation landscape of normal gastric epithelium
The somatic mutation landscape of normal gastric epithelium Open
View article: Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency
Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency Open
View article: Clonal dynamics and somatic evolution of haematopoiesis in mouse
Clonal dynamics and somatic evolution of haematopoiesis in mouse Open
View article: A dedicated caller for DUX4 rearrangements from whole-genome sequencing data
A dedicated caller for DUX4 rearrangements from whole-genome sequencing data Open
Rearrangements involving the DUX4 gene (DUX4-r) define a subtype of paediatric and adult acute lymphoblastic leukaemia (ALL) with a favourable outcome. Currently, there is no 'standard of care' diagnostic method for their confident identif…
View article: Prolonged persistence of mutagenic DNA lesions in somatic cells
Prolonged persistence of mutagenic DNA lesions in somatic cells Open
DNA is subject to continual damage, leaving each cell with thousands of individual DNA lesions at any given moment 1–3 . The efficiency of DNA repair means that most known classes of lesion have a half-life of minutes to hours 3,4 , but th…
View article: Sperm sequencing reveals extensive positive selection in the male germline
Sperm sequencing reveals extensive positive selection in the male germline Open
Mutations that occur in the cell lineages of sperm or eggs can be transmitted to offspring. In humans, positive selection of driver mutations during spermatogenesis is known to increase the birth prevalence of certain developmental disorde…
View article: Somatic mutation and selection at epidemiological scale
Somatic mutation and selection at epidemiological scale Open
As we age, many tissues become colonised by microscopic clones carrying somatic driver mutations ( 1–10 . Some of these clones represent a first step towards cancer whereas others may contribute to ageing and other diseases. However, our u…
View article: Clonal dynamics after allogeneic haematopoietic cell transplantation
Clonal dynamics after allogeneic haematopoietic cell transplantation Open
View article: Maintenance of hematopoietic stem cells by tyrosine-unphosphorylated STAT5 and JAK inhibition
Maintenance of hematopoietic stem cells by tyrosine-unphosphorylated STAT5 and JAK inhibition Open
Adult hematopoietic stem cells (HSCs) are responsible for the lifelong production of blood and immune cells, a process regulated by extracellular cues, including cytokines. Many cytokines signal through the conserved Janus kinase (JAK)/sig…
View article: Clonal dynamics and somatic evolution of haematopoiesis in mouse
Clonal dynamics and somatic evolution of haematopoiesis in mouse Open
Haematopoietic stem cells maintain blood production throughout life. While extensively characterised using the laboratory mouse, little is known about how the population is sustained and evolves with age. We isolated stem cells and progeni…
View article: Multifocal, multiphenotypic tumours arising from an MTOR mutation acquired in early embryogenesis
Multifocal, multiphenotypic tumours arising from an MTOR mutation acquired in early embryogenesis Open
Embryogenesis is a vulnerable time. Mutations in developmental cells can result in the wide dissemination of cells predisposed to disease within mature organs. We characterised the evolutionary history of four synchronous renal tumours fro…
View article: Convergent evolution of somatic escape variants in<i>SERPINA1</i>in the liver in alpha-1 anti-trypsin deficiency
Convergent evolution of somatic escape variants in<i>SERPINA1</i>in the liver in alpha-1 anti-trypsin deficiency Open
Somatic variants accumulate in non-malignant tissues with age 1,2 . Functional variants leading to clonal advantage of hepatocytes accumulate in the liver from patients with acquired chronic liver disease (CLD) 3–5 . Whether these somatic …
View article: Complex de novo structural variants are an underestimated cause of rare disorders
Complex de novo structural variants are an underestimated cause of rare disorders Open
Complex de novo structural variants (dnSVs) are crucial genetic factors in rare disorders, yet their prevalence and characteristics in rare disorders remain poorly understood. Here, we conducted a comprehensive analysis of whole-genome seq…
View article: Insights into non-crossover recombination from long-read sperm sequencing
Insights into non-crossover recombination from long-read sperm sequencing Open
Meiotic recombination is a fundamental process that generates genetic diversity by creating new combinations of existing alleles. Although human crossovers have been studied at the pedigree, population and single-cell level, the more frequ…
View article: Procarbazine-induced Genomic Toxicity in Hodgkin Lymphoma Survivors
Procarbazine-induced Genomic Toxicity in Hodgkin Lymphoma Survivors Open
Background Procarbazine-containing chemotherapy regimens associate with cytopenias and infertility, suggesting stem cell toxicity. Procarbazine in eBEACOPP (escalated dose bleomycin, etoposide, doxorubicin, cyclophosphamide, vincristine, p…
View article: A dedicated caller for<i>DUX4</i>rearrangements from whole-genome sequencing data
A dedicated caller for<i>DUX4</i>rearrangements from whole-genome sequencing data Open
Rearrangements involving the DUX4 gene ( DUX4- r) define a subtype of paediatric and adult acute lymphoblastic leukaemia (ALL) with a favourable outcome. Currently, there is no ‘standard of care’ diagnostic method for their confident ident…
View article: Analysis of somatic mutations in whole blood from 200,618 individuals identifies pervasive positive selection and novel drivers of clonal hematopoiesis
Analysis of somatic mutations in whole blood from 200,618 individuals identifies pervasive positive selection and novel drivers of clonal hematopoiesis Open
View article: Interpreting and Georeferencing the Concept of “Near” in Biodiversity Records
Interpreting and Georeferencing the Concept of “Near” in Biodiversity Records Open
Georeferencing historical biodiversity specimens is a difficult but necessary task to bring data accumulated in the course of past scientific efforts into full currency for modern use. Textual locality descriptions vary widely, and are pro…
View article: Deciphering the role of germline complex de novo structural variations in rare disorders
Deciphering the role of germline complex de novo structural variations in rare disorders Open
De novo structural variants (dnSVs) have emerged as crucial genetic factors in the context of rare disorders. However, these variations often go undiagnosed in routine genetic screening practices. To shed light on their significance in rar…