Search Results - "MARDIS, Elaine"
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DNA sequencing technologies: 2006–2016
Published in Nature protocols (01-02-2017)“…In this Perspective, Elaine Mardis reviews a decade of DNA sequencing technology, from the introduction of Next-Generation Sequencing to single-molecule…”
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A decade’s perspective on DNA sequencing technology
Published in Nature (London) (10-02-2011)“…Human genomics comes of age To mark the tenth anniversary of the publication reporting a draft sequence of the human genome by the Human Genome Project, this…”
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Next-Generation Sequencing Platforms
Published in Annual review of analytical chemistry (Palo Alto, Calif.) (12-06-2013)“…Automated DNA sequencing instruments embody an elegant interplay among chemistry, engineering, software, and molecular biology and have built upon Sanger's…”
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The emerging clinical relevance of genomics in cancer medicine
Published in Nature reviews. Clinical oncology (01-06-2018)“…The combination of next-generation sequencing and advanced computational data analysis approaches has revolutionized our understanding of the genomic…”
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Neoantigens and genome instability: impact on immunogenomic phenotypes and immunotherapy response
Published in Genome medicine (20-11-2019)“…The resurgence of immune therapies in cancer medicine has elicited a corresponding interest in understanding the basis of patient response or resistance to…”
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Next-generation DNA sequencing methods
Published in Annual review of genomics and human genetics (01-01-2008)“…Recent scientific discoveries that resulted from the application of next-generation DNA sequencing technologies highlight the striking impact of these…”
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The Impact of Next-Generation Sequencing on Cancer Genomics: From Discovery to Clinic
Published in Cold Spring Harbor perspectives in biology (01-09-2019)“…The application of next-generation sequencing (NGS) technology to the study of cancer genomes has been transformational. Not only has this technology revealed…”
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Ten-Patient Trial: Remarkable Responses in Pediatric Cancers
Published in Clinical cancer research (01-12-2023)“…A clinical trial of nivolumab in 10 patients with pediatric cancer with high tumor mutational burden demonstrated complete responses in 50% of patients. This…”
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The impact of next-generation sequencing technology on genetics
Published in Trends in genetics (01-03-2008)“…If one accepts that the fundamental pursuit of genetics is to determine the genotypes that explain phenotypes, the meteoric increase of DNA sequence…”
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Genomic Landscape of Non-Small Cell Lung Cancer in Smokers and Never-Smokers
Published in Cell (14-09-2012)“…We report the results of whole-genome and transcriptome sequencing of tumor and adjacent normal tissue samples from 17 patients with non-small cell lung…”
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Contribution of systemic and somatic factors to clinical response and resistance to PD-L1 blockade in urothelial cancer: An exploratory multi-omic analysis
Published in PLoS medicine (26-05-2017)“…Inhibition of programmed death-ligand 1 (PD-L1) with atezolizumab can induce durable clinical benefit (DCB) in patients with metastatic urothelial cancers,…”
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Applications of Immunogenomics to Cancer
Published in Cell (09-02-2017)“…Cancer immunogenomics originally was framed by research supporting the hypothesis that cancer mutations generated novel peptides seen as “non-self” by the…”
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Genomic prediction of neoantigens: immunogenomics before NGS
Published in Nature reviews. Genetics (01-09-2021)“…Elaine Mardis highlights a publication that served as a fundamental source of inspiration for the field of immunogenomics, setting the stage for neoantigen…”
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Tumor neoantigens: building a framework for personalized cancer immunotherapy
Published in The Journal of clinical investigation (01-09-2015)“…It is now well established that the immune system can recognize developing cancers and that therapeutic manipulation of immunity can induce tumor regression…”
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Overview of modern genomic tools for diagnosis and precision therapy of childhood solid cancers
Published in Current opinion in pediatrics (01-02-2024)“…The application of technology and computational analyses to generate new data types from pediatric solid cancers is transforming diagnostic accuracy. This…”
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Many mutations in one clinical-trial basket
Published in Nature (London) (08-02-2018)“…When abnormality in a gene is linked to cancer and a drug targets the encoded protein, how can the patients who will respond to the drug be identified if the…”
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De Novo Gene Disruptions in Children on the Autistic Spectrum
Published in Neuron (Cambridge, Mass.) (26-04-2012)“…Exome sequencing of 343 families, each with a single child on the autism spectrum and at least one unaffected sibling, reveal de novo small indels and point…”
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The $1,000 genome, the $100,000 analysis?
Published in Genome medicine (26-11-2010)Get full text
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The Next-Generation Sequencing Revolution and Its Impact on Genomics
Published in Cell (26-09-2013)“…Genomics is a relatively new scientific discipline, having DNA sequencing as its core technology. As technology has improved the cost and scale of genome…”
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SciClone: inferring clonal architecture and tracking the spatial and temporal patterns of tumor evolution
Published in PLoS computational biology (01-08-2014)“…The sensitivity of massively-parallel sequencing has confirmed that most cancers are oligoclonal, with subpopulations of neoplastic cells harboring distinct…”
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