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Identification of transcriptional programs using dense vector representations defined by mutual information with GeneVector

Dr. Nicholas Ceglia et al. published the paper Identification of transcriptional programs using dense vector representations defined by mutual information with GeneVector. A scalable framework for dimensionality reduction, GeneVector identifies transcriptional programs and classifies cell types. You can read the paper in Nature Communications here.
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Clonal evolution during metastatic spread in high-risk neuroblastoma

Dr. Elli Papaemmanuil et al. published the paper Clonal evolution during metastatic spread in high-risk neuroblastoma. Patients with high-risk neuroblastoma generally present with widely metastatic disease and often relapse despite intensive therapy. As most studies to date focused on diagnosis-relapse pairs, our understanding of the genetic and clonal dynamics of metastatic spread and disease progression...
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Personalized RNA neoantigen vaccines stimulate T cells in pancreatic cancer

Dr. Benjamin Greenbaum et al. published the paper Personalized RNA neoantigen vaccines stimulate T cells in pancreatic cancer. Pancreatic ductal adenocarcinoma (PDAC) is lethal in 88% of patients, yet harbours mutation-derived T cell neoantigens that are suitable for vaccines. Here in a phase I trial of adjuvant autogene cevumeran, an individualized neoantigen vaccine based on uridine mRNA–lipoplex...
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Genetics and anatomy sculpt immune-cell partners of ovarian cancer

Genetics and anatomy sculpt immune-cell partners of ovarian cancer was recently published in Nature. The most common type of ovarian cancer, called high-grade serous ovarian cancer (HGSOC), is challenging from a therapeutic perspective. By the time most individuals are diagnosed with this type of tumour, it has already spread (metastasized) from the primary site to...
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Ovarian cancer mutational processes drive site-specific immune evasion

Dr. Sohrab Shah et al. published the paper Ovarian cancer mutational processes drive site-specific immune evasion in Nature. High-grade serous ovarian cancer (HGSOC) is an archetypal cancer of genomic instability patterned by distinct mutational processes, tumour heterogeneity and intraperitoneal spread. Immunotherapies have had limited efficacy in HGSOC, highlighting an unmet need to assess how mutational...
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Single-cell genomic variation induced by mutational processes in cancer

Dr. Sohrab Shah et al. published the paper Single-cell genomic variation induced by mutational processes in cancer in Nature. How cell-to-cell copy number alterations that underpin genomic instability in human cancers drive genomic and phenotypic variation, and consequently the evolution of cancer, remains understudied. Here, by applying scaled single-cell whole-genome sequencing to wild-type, TP53-deficient and TP53-deficient;BRCA1-deficient or TP53-deficient;BRCA2-deficient...
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Unified classification and risk-stratification in Acute Myeloid Leukemia

Dr. Elli Papaemmanuil et al. published the paper Unified classification and risk-stratification in Acute Myeloid Leukemia in Nature Communications. In it they use use comprehensive molecular profiling data from 3,653 patients to characterize and validate 16 molecular classes describing 100% of AML patients. Each class represents diverse biological AML subgroups, and is associated with distinct...
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Multimodal data integration using machine learning improves risk stratification of high-grade serous ovarian cancer

Dr. Kevin M. Boehm et al. published the paper Multimodal data integration using machine learning improves risk stratification of high-grade serous ovarian cancer in Nature Cancer. In it they assemble a multimodal dataset of 444 patients with primarily late-stage high-grade serous ovarian cancer and discover quantitative features, such as tumor nuclear size on staining with...
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Neoantigen quality predicts immunoediting in survivors of pancreatic cancer

Dr. Benjamin Greenbaum co authored the paper, “Neoantigen quality predicts immunoediting in survivors of pancreatic cancer” along with Marta Łuksza et al. in the journal Nature .  In it they investigate how 70 human pancreatic cancers evolved over 10 years. They find that, despite having more time to accumulate mutations, rare long-term survivors of pancreatic...
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Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers

Dr. Elli Papaemmanuil co authored the paper, “Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers” along with N. Shukla et al. in the journal Nature Communications.  In it they explore how the utility of cancer whole genome and transcriptome sequencing (cWGTS) in oncology is increasingly recognized. However, implementation of cWGTS...
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