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• Target-capture sequencing of FFPE tumor samples from patients diagnosed with NKTL

  211 NKTL FFPE specimens were screened for somatic mutations using deep targeted capture sequencing. FFPE rolls or slides were extracted using QIAamp DNA FFPE Tissue kit (QIAGEN). The FFPE genomic DNA was treated with NEBNext FFPE DNA Repair Mix and assessed by Quant-it PicoGreen dsDNA Assay Kit (Invitrogen). The library was generated from 10-200 ng DNA with SureSelectXT Low Input Target Enrichment System for Illumina Paired-End Sequencing Library (Agilent Technologies) according to manufacturer’s instructions. RNA based probe was designed with SureDesign (Agilent Technologies) to target-capture 140 genes. Next, the captured libraries were pooled in equimolar concentration and sequenced on Illumina Novaseq 6000 platform with SP or S1 chip.

  Dataset EGAD00001005303

• Genomic Factors Involved in Chromosome Rearrangements

  Approximately 15-20% of children referred for chromosomal microarray analysis (CMA) testing have a clinically relevant CNV that in many cases explains their phenotype. The goal of this study is to discover the genomic factors that mediate chromosome rearrangements and the phenotypic effects of chromosome rearrangements. We hypothesize that particular DNA sequences are susceptible to breakage and rearrangement. To this end, we fine-map chromosome breakage sites and analyze the DNA motifs that underlie double-strand breaks (DSBs). Our studies will also capture the genomic structure of breakpoint junctions, which will allow us to determine the mechanisms of DNA repair that shape different types of chromosome rearrangements. We also correlate chromosome rearrangements with clinical features to establish genotype-phenotype correlations. Defining critical regions of deletion or duplication is the first step to identifying candidate genes responsible for particular phenotypes.

  Study phs000845

• Development of CMT Peds Scale for Children with CMT

  Information about how different forms of CMT affect children is not readily available because there are not good methods to measure impairment of children with CMT. The purpose of this project is to develop and test such a method and to then test this scale to ensure that it is an effective measurement of impairment of CMT in children, that the children tolerate it well, that different investigators using this method obtain similar results and that changes over time with the scale allow measurement of progression of CMT in the children. Primary Objective: To develop and test the CMT Peds scale (CMTPedS) in children with CMT in order to refine the scoring for future natural history and therapeutic trials. Secondary Objective: We propose to test the sensitivity of the CMT Peds Scale in a longitudinal study and compare the CMT Peds Scale with the Children's Quality of Life scale CHQ-PF50. 2000 patients <21 years of age with various forms of CMT will be evaluated at baseline and at subsequent annual follow up visits when possible. This first study release makes available data of n=208 study participants.

  Study phs001553

• Diagnostic yield and clinical utility of whole-exome sequencing in pediatric patients with rare and undiagnosed diseases in the Czech Republic

  In our single-center study, we have launched a pilot program for pediatric patients with undiagnosed diseases in the second-largest university hospital in the Czech Republic. WES was implemented as a first-line test after inclusion in the study as part of the diagnostic workflow. This study was prospectively conducted at the Department of Pediatrics at University Hospital Brno between 2020 and 2023.

  Dataset EGAD50000000640

• EWS-WT1 Fusion Isoforms Establish Oncogenic Programs and Therapeutic Vulnerabilities in Desmoplastic Small Round Cell Tumors

  Desmoplastic Small Round Cell Tumor (DSRCT) is an aggressive mesenchymal tumor driven by fusions between the disordered domain of the Ewing sarcoma RNA binding protein 1 (EWSR1) and the developmental transcription factor Wilms tumor 1 (WT1). We used genome-wide chromatin profiling to identify EWSR1-WT1-dependent gene regulatory networks and target genes. Our studies show that EWS-WT1 is a powerful activator of distal regulatory elements and controls an oncogenic gene expression program that characterizes primary DSRCTs. ChIP-seq profiles for histone marks in primary DSRCT samples are available through dbGaP.

  Study phs003682

• The Normal Human Tissue Sequencing Project: Non-Diseased, Non-Malignant Tissues

  The Normal Human Tissue Sequencing Project provides RNA expression and DNA methylation data from normal (non-diseased) human tissues. This data set from a variety of source tissue is a valuable resource for human disease studies.

  Study phs000819

• Small intestinal plasma cells transcriptome profiles

  Objective: Plasma cells (PCs) are terminally differentiated B-lymphocytes that produce antibodies. The lamina propria of the small intestine is particularly rich in PCs. In coeliac disease (CeD) there is infiltration and increased density of PCs in the small intestinal lesion. Many of these PCs produce disease-specific autoantibodies targeting the enzyme transglutaminase 2 (TG2). The plasmacytosis and high numbers of disease-antigen reactive PCs in CeD motivated us to study the transcriptional programme of PCs from coeliac gut lesions. Design: We performed RNASeq analysis of IgA+ PCs of untreated CeD patients being specific or non-specific for TG2 and from healthy controls.

  Study EGAS00001003345

• University of Texas PDX Development and Trial Center Grant

  The goal for the University Texas PDX Development and Trial Center (UTPDTC) is to optimize personalized biomarker-based cancer therapy and identify effective targeted drugs based on the molecular characteristics of each tumor. Our short-term goals are to establish a biobank of clinically, and molecularly-annotated Patient-Derived Xenografts (PDXs) and to use PDXs as a platform for preclinical drug development and biomarker discovery. The primary goal for UTPDTC investigators will be to develop PDX trial strategies for preclinical testing of single agents and drug combinations. These models will allow the determination of the optimal treatments (single drugs or combinations) that should be tested in clinical trials in increasingly individualized, molecularly defined subsets of tumors. The goal of the Patient-Derived Xenograft Core is to provide high-quality clinically relevant and molecularly annotated PDX models for the research projects proposed in the University of Texas PDX Development and Trial Center (UTPDTC) grant application and to the research activity of the NCI PDX Development and Trial Centers Research Network (PDXNet) by leveraging PDX resources at our institutions and developing new PDX models from human cancer specimens using rigorous quality standards so that the models can be used to guide clinical trial development. The PDX models developed and/or characterized by the PDX Core will be available to other cancer researchers through the PDXNet and NCI Patient-Derived Models Repository (PDMR).

  Study phs001980

• Dataset for WGS head and neck cancer samples

  This dataset contain WGS sequencing data of head and neck cancer samples as well as blood plasma controls. Sequencing was performed on Illumina Novaseq 6000 using KAPA HyperPrep Kit. The sequencing was always paired.

  Dataset EGAD50000000233

• Dataset for ARHGAP11A knockout and control organoid cells.

  This dataset contains 9 RNA sequencing samples of hiPSC-derived forebrain organoid ARHGAP11A knockout and hiPSC-derived forebrain organoid control cells. Sequencing was performed on Illumina NovaSeq 6000. The sequencing was always paired.

  Dataset EGAD00001015706