Search Results - "DiLorenzo, Sebastian"
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Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants [version 1; peer review: 2 approved]
Published in F1000 research (2020)“…Whole-genome sequencing (WGS) is a fundamental technology for research to advance precision medicine, but the limited availability of portable and…”
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2
Targeted sequencing of tonsillar and base of tongue cancer and human papillomavirus positive unknown primary of the head and neck reveals prognostic effects of mutated FGFR3
Published in Oncotarget (2017)“…Human papillomavirus positive (HPV+) tonsillar cancer (TSCC), base of tongue cancer (BOTSCC) and unknown primary cancer of the head and neck (HNCUP) have…”
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3
Clinical candidate and genistein analogue AXP107‐11 has chemoenhancing functions in pancreatic adenocarcinoma through G protein‐coupled estrogen receptor signaling
Published in Cancer medicine (Malden, MA) (01-12-2019)“…Despite advances in cancer therapeutics, pancreatic cancer remains difficult to treat and often develops resistance to chemotherapies. We have evaluated a…”
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4
Proteogenomics decodes the evolution of human ipsilateral breast cancer
Published in Communications biology (2023)“…Ipsilateral breast tumor recurrence (IBTR) is a clinically important event, where an isolated in-breast recurrence is a potentially curable event but…”
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5
Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants [version 2; peer review: 2 approved]
Published in F1000 research (2020)“…Whole-genome sequencing (WGS) is a fundamental technology for research to advance precision medicine, but the limited availability of portable and…”
Get full text
Journal Article -
6
Patchwork: allele-specific copy number analysis of whole-genome sequenced tumor tissue
Published in Genome Biology (25-03-2013)“…Whole-genome sequencing of tumor tissue has the potential to provide comprehensive characterization of genomic alterations in tumor samples. We present…”
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Whole-Genome Sequencing of FollicularThyroid Carcinomas Reveal Recurrent Mutations in MicroRNA Processing Subunit DGCR8
Published in The journal of clinical endocrinology and metabolism (01-11-2021)“…Background: The genomic and transcriptomic landscape of widely invasive follicular thyroid carcinomas (wiFTCs) and Hiirthle cell carcinoma (HCC) are poorly…”
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Whole-genome Sequencing of Follicular Thyroid Carcinomas Reveal Recurrent Mutations in MicroRNA Processing Subunit DGCR8
Published in The journal of clinical endocrinology and metabolism (2021)“…Abstract Background The genomic and transcriptomic landscape of widely invasive follicular thyroid carcinomas (wiFTCs) and Hürthle cell carcinoma (HCC) are…”
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9
Mutation, methylation, and gene expression profiles in dup(1q)-positive pediatric B-cell precursor acute lymphoblastic leukemia
Published in Leukemia (01-10-2018)“…High-throughput sequencing was applied to investigate the mutation/methylation patterns on 1q and gene expression profiles in pediatric B-cell precursor acute…”
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