Tim Coorens
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View article: Supplemental Figure 4 from Clinical Efficacy and Whole-Exome Sequencing of Liquid Biopsies in a Phase IB/II Study of Bazedoxifene and Palbociclib in Advanced Hormone Receptor–Positive Breast Cancer
Supplemental Figure 4 from Clinical Efficacy and Whole-Exome Sequencing of Liquid Biopsies in a Phase IB/II Study of Bazedoxifene and Palbociclib in Advanced Hormone Receptor–Positive Breast Cancer Open
Supplemental Figure 4: Overview of SSNVs in 68 ctDNA WES samples
View article: Supplemental Figure 6 from Clinical Efficacy and Whole-Exome Sequencing of Liquid Biopsies in a Phase IB/II Study of Bazedoxifene and Palbociclib in Advanced Hormone Receptor–Positive Breast Cancer
Supplemental Figure 6 from Clinical Efficacy and Whole-Exome Sequencing of Liquid Biopsies in a Phase IB/II Study of Bazedoxifene and Palbociclib in Advanced Hormone Receptor–Positive Breast Cancer Open
Supplemental Figure 6: Evolutionary analysis of longitudinal plasma ctDNA samples
View article: Supplementary Data from Clinical Efficacy and Whole-Exome Sequencing of Liquid Biopsies in a Phase IB/II Study of Bazedoxifene and Palbociclib in Advanced Hormone Receptor–Positive Breast Cancer
Supplementary Data from Clinical Efficacy and Whole-Exome Sequencing of Liquid Biopsies in a Phase IB/II Study of Bazedoxifene and Palbociclib in Advanced Hormone Receptor–Positive Breast Cancer Open
supplemental tables 5-7
View article: Supplemental Figure 5 from Clinical Efficacy and Whole-Exome Sequencing of Liquid Biopsies in a Phase IB/II Study of Bazedoxifene and Palbociclib in Advanced Hormone Receptor–Positive Breast Cancer
Supplemental Figure 5 from Clinical Efficacy and Whole-Exome Sequencing of Liquid Biopsies in a Phase IB/II Study of Bazedoxifene and Palbociclib in Advanced Hormone Receptor–Positive Breast Cancer Open
Supplemental Figure 5: SSNVs detected in the cancer-related genes across 68 ctDNA WES samples
View article: Supplemental Figure 1 from Clinical Efficacy and Whole-Exome Sequencing of Liquid Biopsies in a Phase IB/II Study of Bazedoxifene and Palbociclib in Advanced Hormone Receptor–Positive Breast Cancer
Supplemental Figure 1 from Clinical Efficacy and Whole-Exome Sequencing of Liquid Biopsies in a Phase IB/II Study of Bazedoxifene and Palbociclib in Advanced Hormone Receptor–Positive Breast Cancer Open
Supplemental Figure 1: Consort diagram
View article: A non-canonical lymphoblast in refractory childhood T-cell leukaemia
A non-canonical lymphoblast in refractory childhood T-cell leukaemia Open
Refractory cancers may arise either through the acquisition of resistance mechanisms or represent distinct disease states. The origin of childhood T-cell acute lymphoblastic leukaemia (T-ALL) that does not respond to initial treatment, i.e…
View article: A comprehensive view of somatic mosaicism by single-cell DNA analysis
A comprehensive view of somatic mosaicism by single-cell DNA analysis Open
Single-cell DNA sequencing offers a powerful means of studying somatic mosaicism but requires careful analysis to mitigate DNA amplification-related artifacts. We performed primary template-directed amplification (PTA) and sequencing of 10…
View article: Extensive and differential platinum chemotherapy mutagenesis in children
Extensive and differential platinum chemotherapy mutagenesis in children Open
SUMMARY Childhood cancer survivors often develop long-term adverse effects, which may be caused by direct mutagenesis of cytotoxic agents. Some of these agents generate distinctive DNA imprints (mutational signatures), as exemplified by pl…
View article: Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data
Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data Open
Mosaic mutations in normal tissues occur at low variant allele fractions (VAFs), complicating detection. To benchmark strategies, the SMaHT Network created a cell-line mixture (1:49) and produced ultra-deep whole-genome sequencing using sh…
View article: A telomere-to-telomere map of somatic mutation burden and functional impact in cancer
A telomere-to-telomere map of somatic mutation burden and functional impact in cancer Open
Oncogenesis involves widespread genetic and epigenetic alterations, yet the full spectrum of somatic variation genome-wide remains unresolved. We generated a near-telomere-to-telomere (T2T) diploid assembly of a donor paired with deep shor…
View article: The Somatic Mosaicism across Human Tissues Network
The Somatic Mosaicism across Human Tissues Network Open
View article: High resolution clonal architecture of hypomutated Wilms tumours
High resolution clonal architecture of hypomutated Wilms tumours 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: Genomic landscape of multiple myeloma and its precursor conditions
Genomic landscape of multiple myeloma and its precursor conditions Open
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: Cancer-independent somatic mutation of the wild-type NF1 allele in normal tissues in neurofibromatosis type 1
Cancer-independent somatic mutation of the wild-type NF1 allele in normal tissues in neurofibromatosis type 1 Open
View article: Data from Predisposition Footprints in the Somatic Genome of Wilms Tumors
Data from Predisposition Footprints in the Somatic Genome of Wilms Tumors Open
Approximately 10% of children with cancer harbor a mutation in a predisposition gene. In children with the kidney cancer Wilms tumor, the prevalence is as high as 30%. Certain predispositions are associated with defined histological and cl…
View article: Supplementary Figures 1-9 from Predisposition Footprints in the Somatic Genome of Wilms Tumors
Supplementary Figures 1-9 from Predisposition Footprints in the Somatic Genome of Wilms Tumors Open
Contains Supplementary Figures 1-9. Supplementary Figure 1 shows age of diagnosis of children and indel burden and rearrangement burden for tumours from predisposed children versus those with sporadic disease. Supplementary Figure 2 shows …
View article: Supplementary Tables 1-8 from Predisposition Footprints in the Somatic Genome of Wilms Tumors
Supplementary Tables 1-8 from Predisposition Footprints in the Somatic Genome of Wilms Tumors Open
Contains Supplementary Tables 1-8. Supplementary Table 1 shows characteristics of discovery cohort. Supplementary Table 2 shows genes included in predisposition analysis. Supplementary Table 3 shows evidence underlying novel predisposition…
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: Predisposition Footprints in the Somatic Genome of Wilms Tumors
Predisposition Footprints in the Somatic Genome of Wilms Tumors Open
Approximately 10% of children with cancer harbor a mutation in a predisposition gene. In children with the kidney cancer Wilms tumor, the prevalence is as high as 30%. Certain predispositions are associated with defined histological and cl…
View article: Single-cell multi-omics map of human fetal blood in Down syndrome
Single-cell multi-omics map of human fetal blood in Down syndrome Open
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: Somatic development of Wilms tumour via normal kidneys in predisposed children
Somatic development of Wilms tumour via normal kidneys in predisposed children Open
Ten percent of children with cancer harbour a predisposition mutation. In children with the kidney cancer, Wilms tumour, the prevalence is as high as 30%. Certain predispositions are associated with defined histological and clinical featur…
View article: The somatic mutation landscape of normal gastric epithelium
The somatic mutation landscape of normal gastric epithelium Open
The landscapes of somatic mutation in normal cells inform on the processes of mutation and selection operative throughout life, permitting insight into normal ageing and the earliest stages of cancer development. Here, by whole-genome sequ…
View article: Haplotype-specific assembly of shattered chromosomes in esophageal adenocarcinomas
Haplotype-specific assembly of shattered chromosomes in esophageal adenocarcinomas Open
View article: Prolonged persistence of mutagenic DNA lesions in stem cells
Prolonged persistence of mutagenic DNA lesions in stem cells Open
DNA suffers continual damage leaving a cell with thousands of individual DNA lesions at any given moment1–3. The efficiency of DNA repair means that most known classes of lesion have a half-life of minutes to hours3,4…
View article: Single-cell multi-omics map of human foetal blood in Down’s Syndrome
Single-cell multi-omics map of human foetal blood in Down’s Syndrome Open
Down’s Syndrome (DS) predisposes individuals to haematological abnormalities, such as increased number of erythrocytes and leukaemia in a process that is initiated before birth and is not entirely understood. To understand dysregulated hem…
View article: Targetable NOTCH1 rearrangements in reninoma
Targetable NOTCH1 rearrangements in reninoma Open