Patient and methods We present a case of whole-genome tumor and germline sequencing in a patient with advanced prostate cancer, who has agreed to make his genomic and clinical data publicly available. Results We describe an 84-year-old Caucasian male with a Gleason 10 oligometastastic hormone-...
Circulating cell-free DNA (cfDNA) is becoming an increasingly important research sample to investigate circulating tumor DNA (ctDNA) for investigation of many cancer types. Usingwhole-genome next-generation sequencing(N...
dinucleotide (DNV) and trinucleotide variants (TNV) and indels (small insertions and deletions); number and type of structural rearrangement variants; percent of the genome affected by copy number aberrations; whether a tumor has undergone whole genome doubling (WGD); specimen type (primary ...
A protocol for whole-genome, single-cell sequencing could help identify new cancer markers and therapeutic targets. Individual cells were isolated from kidney cancer samples from patients, and the samples' DNA was amplified. Exome sequencing of the amplified DNA identified genetic variability at the ...
This unbiased analysis thus excludes a clonal insertion of BLV in breast tumor cells and strongly argues against an association between BLV and breast cancer. 展开 关键词: Breast cancer Bovine leukemia virus BLV DOI: 10.1186/s12977-016-0308-3 被引量: 9 ...
Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic diagnosis of rare and unknown diseases and for identification of actionable cancer drivers. Compared to other molecular genetic methods, WGS captures most genomic variat
Chordoma is a rare bone tumor with an unknown etiology and high recurrence rate. Here we conduct whole genome sequencing of 80 skull-base chordomas and identify PBRM1, a SWI/SNF (SWItch/Sucrose Non-Fermentable) complex subunit gene, as a significantly mu
We performed WGS on matched tumor-blood samples from 92 cases and transcriptome sequencing on matched tumor-adjacent tissues from 90 of the same individuals. Clinical information and inferred TILs of 90 patients were listed in the Supplementary Table7. An additional 57 cases (matched tumor-blood) ...
Whole-genome sequencing; identification of somatic changes Whole-genome sequencing of paired tumor/normal was performed in all cases. In short, raw sequencing data were processed using bcl2fastq (versions 2.17 to 2.20), mapped to the human reference genome GRCh37 using BWA-mem v0.7.Sa and GATK...
We found 3-fold more variants and up to 9-fold more heteroplasmic regions in tumor when compared to paired IC samples. Moreover, tumor presented more heteroplasmic variants when compared to EC, while IC and EC showed no significant difference when compared to each other. Tumor also presented...