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Mayo Clinic-Led Study Detects DNA Mutations Across Noncancerous Tissues
A Mayo Clinic-led study has shown how to detect a broad range of DNA mutations in noncancerous human tissues and across the genome. The analysis, drawing... -
Sequencing Reveals Hidden Mutations in Autoimmune Disease
New research suggests that autoimmune diseases may be driven by DNA changes in immune cells that remove natural restraints on the immune system. The study,... -
Tools for eQTL and somatic mutation analysis of RNA-seq data
Hi,
Does anybody have experience performing eQTL analysis and/or somatic mutation analysis of bulk RNA-seq data (without normal sample)?... -
somatic SNV tool for ONT samples
Hello,
I'm looking for a tool to call somatic single nucleotide variations on reads from an ONT run.
I have both tumor and normal samples... -
Article Collection SEQC2 Consortium: multi-center cross-platform benchmark data sets
The Somatic Mutation Working Group of the FDA-led MAQC/SEQC2 Consortium has released the multi-center and cross-platform whole-genome and whole-exome... -
Benchmark data sets and best practices for WGS/WES somatic mutation detection
The FDA-led MAQC-IV/SEQC2 Consortium has published the data descriptor paper, i.e., Zhao Y. et al. Sci Data (2021), detailing the multi-center multi-platform...Last edited by lethalfang; 11-09-2021, 11:32 AM. -
Allele Frequency Reproducibility: An interesting observation
Hi All,
I have got an very interesting observation during troubleshooting of an experiment with patient sample as described below (I would... -
Lists of somatic mutations from WGS
Dear all,
I am looking for lists of somatic mutations from cohorts of patient (>=50 patients).
There are some discussions about...Last edited by Jane M; 05-02-2019, 07:51 AM. -
detection of somatic mutations using RNA seq data for tumor samples paired with WES
i have WES data for normal and I have RNA seq only for tumor. I want to use the RNA seq data to detect somatic driver mutations and I want to pair it... -
Somatic Variant Reporting
Our department is looking for a software solution to support analysis and reporting of somatic cancer variants (currently panels, but eventually exomes).... -
interpret a somatic mutation labelled in dbsnp
Hi,
I am analysing somatic mutations that -theoretically- have been already filtered for SNPs -I'm not involved in the mutation pipeline-;... -
Filtering steps for VarScan2 somatic and germline calls
What is the proper filtering pipeline for somatic mutation detection using VarScan2, with tumor/normal paired samples?
My understanding of the... -
Sort of a noob here: looking for somatic mutation in tumors (NGS sequencing)
As sort of a pilot study, we used Solid 5500 (Agilent SureSelect Exome) to sequence one
tumor tissue and one matched normal tissue from the same... -
How Varscan process the pileup data?
Hi,
if any of you has used Varscan to find somatic mutations given normal and tumor pileup files, maybe you can give me some light about... -
Error during GATK SomaticIndelDetector
Hi,
I'm currently working in a pipeline to assess somatic mutations (SNPs/indels) so I am checking the SomaticIndelDetector tool from GenomeAnalysisTK-1.1-25....
