I'm new to bioinformatics (not my field) and am relying on GUI based programs to handle data processing (for now). Currently, I'm using Geneious to compare sanger sequencing data from one of our cell lines to the ClinVar database to associate the phenotype of the cells with a specific mutation. The only way I've gotten the ClinVar data to align with the refseq is utilizing the outdated files from the USCS genome browser. I'd like to use the latest build of ClinVar (for hg19), but for some reason it won't match up with the GrCh37.p13 build because the sequence lengths are different. Ideally, I would like to utilize a program that will map my sanger sequencing runs to the reference genome, find possible heterozygotes in my chromatograms, and correlate these to previously reported variants associated with disease. I'm open to learning to command line based programs in the future.
hi pls go throw this website it really usefull to u
http://erwinirawansblog.blogspot.kr/2014/06/short-charting-tutorial-using-r.html
I figured out my issue using geneious, turns out that the names in the VCF file didn't correspond to the names in the reference sequence. Thanks for the link though! I've been interested in learning more about using R for data analysis.
- Badges
- Science topic
- Similar topics
- Bioinformatics
- Bioinformatics and Computational Biology