16810 results for "sec+and+unspecified+malignant+neoplasm"

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• High-throughput transcriptome data of paediatric ETV6-RUNX1 acute lymphoblastic leukemia

  High-throughput transcriptome sequencing data from paediatric (<18-y) ETV6-RUNX1 fusion positive acute lymphoblastic leukemias. Dataset includes fastq and BAM files from diagnostic samples of 33 patients.

  Dataset EGAD00001010164

• WGS

  Purified DNA from PDX samples were subjected to WGS. Libraries were performed using the TruSeq DNA PCR-Free kit (Illumina) starting with 1μg of input DNA and performed following manufacturer's instructions. Libraries were sequenced on a NovaSeq 6000 (2x151 bp) instrument (Illumina). A mean coverage of 30.4x was obtained.

  Dataset EGAD00001010309

• Whole-genome sequencing of BCR-ABL1 lymphoblastic leukemia

  This dataset is derived from whole-genome sequencing (WGS) of DNA from 57 BCR-ABL1 lymphoblastic leukemias (53 diagnostic, 4 relapse) and 53 germline samples.

  Dataset EGAD00001010323

• Single-cell RNA-sequencing of nivolumab-treated glioblastoma

  Single-cell RNA-sequencing of 8 patients, from primary and relapse tumour (total of 16 samples). Patients were treated with nivolumab prior to relapse surgery.

  Dataset EGAD00001010843

• Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

  As part of the study "Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation" we wanted to identiffy the SNVs that are located in STRC and which ones in STRCP1. For this we applied targeted long-read sequencing.

  Dataset EGAD00001011305

• WGS dataset of Hepatoblastoma tumoroid biobank as a key resource for tumour genetics

  WGS dataset of Hepatoblastoma tumoroid biobank with WGS of tumor and matched tumoroids

  Dataset EGAD00001015671

• Oral Microbiome in Esophageal Adenocarcinoma

  The purpose of our study was to assess the influence of oral microbiota on the development of esophageal cancer. Our preliminary case-control studies reported a global alteration of foregut microbiome in esophageal adenocarcinoma with the strongest changes found in the oral microbiome. We hypothesise that commensal oral bacteria are capable of activating or degrading carcinogens in cigarette smoke and therefore may contribute to esophageal carcinogenesis. We conducted a prospective study nested in two large US cohorts, to determine whether oral microbiota are associated with subsequent esophageal adenocarcinoma.

  Study phs001527

• Exome Sequencing Analysis of Cutaneous Squamous Cell Carcinoma

  The Exome Sequencing Analysis of Cutaneous Squamous Cell Carcinoma (SCC) study is a single-center cohort study. To identify recurrent genomic aberrations that might underlie the development of this malignancy, we performed whole exome sequencing on a series of SCC-normal pairs to distill a list of 336 candidate genes that were subsequently re-sequenced in 100 SCC-normal pairs with an average depth >1200X. This study also included whole-genome copy number analysis on 5 primary SCC with KNSTRN p.Ser24Phe and 5 histologically matched SCC with wild-type KNSTRN.

  Study phs000785

• Resistance studies in Lung Cancer

  The purpose of the study was to compare gene expression profiles from a cohort of crizotinib-resistant ALK-rearranged lung tumors and a cohort of treatment-naive ALK-rearranged lung tumors. Expression profiles were generated by RNA-seq. In parallel, gene expression profiles were obtained from ALK-rearranged lung cancer cell lines in the presence or absence of the ALK inhibitor TAE684. Gene expression profiles were also obtained from ALK-rearranged cells ectopically expressing genes associated with ALK inhibitor resistance that were identified from a functional genetic study.

  Study phs000855

• Exome Sequencing in Schizophrenia Families

  Schizophrenia is a complex neuropsychiatric disorder characterized by marked genetic heterogeneity. Much of the genetic architecture of the disorder has yet to be explained, but de novo mutations appear to play an important role. We used exome sequencing of parent-offspring quads and trios to detect de novo mutations in persons with schizophrenia. Patients were more likely to harbor one or more damaging de novo mutations, as compared to their healthy siblings. The genes disrupted by damaging mutations in patients operated in processes important to early brain development.

  Study phs000738