Whole Genome and Transcriptome Sequencing of a B3 Thymoma
نویسندگان
چکیده
Molecular pathology of thymomas is poorly understood. Genomic aberrations are frequently identified in tumors but no extensive sequencing has been reported in thymomas. Here we present the first comprehensive view of a B3 thymoma at whole genome and transcriptome levels. A 55-year-old Caucasian female underwent complete resection of a stage IVA B3 thymoma. RNA and DNA were extracted from a snap frozen tumor sample with a fraction of cancer cells over 80%. We performed array comparative genomic hybridization using Agilent platform, transcriptome sequencing using HiSeq 2000 (Illumina) and whole genome sequencing using Complete Genomics Inc platform. Whole genome sequencing determined, in tumor and normal, the sequence of both alleles in more than 95% of the reference genome (NCBI Build 37). Copy number (CN) aberrations were comparable with those previously described for B3 thymomas, with CN gain of chromosome 1q, 5, 7 and X and CN loss of 3p, 6, 11q42.2-qter and q13. One translocation t(11;X) was identified by whole genome sequencing and confirmed by PCR and Sanger sequencing. Ten single nucleotide variations (SNVs) and 2 insertion/deletions (INDELs) were identified; these mutations resulted in non-synonymous amino acid changes or affected splicing sites. The lack of common cancer-associated mutations in this patient suggests that thymomas may evolve through mechanisms distinctive from other tumor types, and supports the rationale for additional high-throughput sequencing screens to better understand the somatic genetic architecture of thymoma.
منابع مشابه
Transcriptome Sequencing of Guilan Native Cow in Comparison with bosTau4 Reference Genome
RNA-sequencing is a new method of transcriptome characterization of organisms. Based on identity and relatedness, there are large genetic variations among different cattle breeds. The goal of the current study was to sequence the transcriptome of Guilan native cow and compare with available reference genome using RNA-sequencing method. Blood samples were collected from 14 Guilan native cows and...
متن کاملClustering of Short Read Sequences for de novo Transcriptome Assembly
Given the importance of transcriptome analysis in various biological studies and considering thevast amount of whole transcriptome sequencing data, it seems necessary to develop analgorithm to assemble transcriptome data. In this study we propose an algorithm fortranscriptome assembly in the absence of a reference genome. First, the contiguous sequencesare generated using de Bruijn graph with d...
متن کاملWhole-Genome Sequencing of a Clinically Isolated Antibiotic-Resistant Enterococcus faecium EntfacYE
Background and Objective: Enterococcal infections are considered the most common nosocomial infections. Nowadays, enterococci show high resistance to common antibiotics, especially vancomycin. Vancomycin-resistant Enterococcus faecium is one of the most common nosocomial infections, which is included in the World Health Organization priority pathogens list for research and development of new an...
متن کاملTranscriptome analysis of the freshwater pearl mussel, Hyriopsis cumingii (Lea) using illumina paired-end sequencing to identify genes and markers
The transcriptome of triangle sail mussel Hyriopsis cumingii (Lea) using Illumina paired-end sequencing technology was conducted and analyzed. Equal quantities of total RNA isolated from six tissues, including gonad, hepatopancreas, foot, mantel, gill and adductor muscle, were pooled to construct a cDNA library. A total of 58.09 million clean reads with 98.48 % Q20 bases were generated. Cluster...
متن کامل