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Search: authors:"Gudrun Schleiermacher"

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Radiogenomics of neuroblastomas: Relationships between imaging phenotypes, tumor genomic profile and survival

Thomas Blanc Gudrun Schleiermacher 1 Ve ronique Mosseri Pascale Philippe-Chomette Isabelle Janoueix-Lerosey Gaelle Pierron Eve Lapouble 1 Michel Peuchmaur Paul Fre neaux Louise Galmiche Nathalie Algret ... Conceptualization: Herve J. Brisse, Thomas Blanc, Gudrun Schleiermacher, VeÂronique Mosseri, Pascale Philippe-Chomette, Isabelle Janoueix-Lerosey, Gaelle Pierron, Michel Peuchmaur, Jean Michon, Olivier Delattre

SegAnnDB: interactive Web-based genomic segmentation

Motivation: DNA copy number profiles characterize regions of chromosome gains, losses and breakpoints in tumor genomes. Although many models have been proposed to detect these alterations, it is not clear which model is appropriate before visual inspection the signal, noise and models for a particular profile. Results: We propose SegAnnDB, a Web-based computer vision system for ...

Learning smoothing models of copy number profiles using breakpoint annotations

Background Many models have been proposed to detect copy number alterations in chromosomal copy number profiles, but it is usually not obvious to decide which is most effective for a given data set. Furthermore, most methods have a smoothing parameter that determines the number of breakpoints and must be chosen using various heuristics. Results We present three contributions for ...

Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data

Summary: More and more cancer studies use next-generation sequencing (NGS) data to detect various types of genomic variation. However, even when researchers have such data at hand, single-nucleotide polymorphism arrays have been considered necessary to assess copy number alterations and especially loss of heterozygosity (LOH). Here, we present the tool Control-FREEC that enables ...

Breakpoint Features of Genomic Rearrangements in Neuroblastoma with Unbalanced Translocations and Chromothripsis

Neuroblastoma is a pediatric cancer of the peripheral nervous system in which structural chromosome aberrations are emblematic of aggressive tumors. In this study, we performed an in-depth analysis of somatic rearrangements in two neuroblastoma cell lines and two primary tumors using paired-end sequencing of mate-pair libraries and RNA-seq. The cell lines presented with typical ...

Clinical Characteristics and Outcome of Patients with Neuroblastoma Presenting Genomic Amplification of Loci Other than MYCN

Background Somatically acquired genomic alterations with MYCN amplification (MNA) are key features of neuroblastoma (NB), the most common extra-cranial malignant tumour of childhood. Little is known about the frequency, clinical characteristics and outcome of NBs harbouring genomic amplification(s) distinct from MYCN. Methods Genomic profiles of 1100 NBs from French centres studied ...

High Cyclin E Staining Index in Blastemal, Stromal or Epithelial Cells Is Correlated with Tumor Aggressiveness in Patients with Nephroblastoma

PurposeIdentifying among nephroblastoma those with a high propensity for distant metastases using cell cycle markers: cyclin E as a regulator of progression through the cell cycle and Ki-67 as a tumor proliferation marker, since both are often deregulated in many human malignancies.Methodology/Principal FindingsA staining index (SI) was obtained by immunohistochemistry using ...