Vcf Articles & Analysis
6 articles found
In response to the emerging needs in global healthcare, SOPHiA GENETICS has just revealed the New Generation SOPHiA DDM™ Platform, aiming to stay at the forefront of precision medicine and address today the healthcare needs of tomorrow. ...
Annovar will put the found variants in context given a vcf file from an unknown specimen and a wealth of established data about genes, other known SNPs, gene variants, and so on. ...
Introduction to OsteoporosisOsteoporosis is a systemic multi-causal skeletal disease that is prone to fractures due to changes in systemic bone mass and microstructure of bone tissue, resulting in increased bone fragility. Osteoporosis is a type of disease that is difficult to cure. According to the etiology, it can be divided into primary osteoporosis, secondary osteoporosis and idiopathic ...
Detected variants may be associated with disease, or simply be non-functional genomic noise. Variant call format (VCF) is the standard format for storing sequence variations, including SNPs (single nucleotide polymorphisms), indels, structural variants, and annotations. ...
Having recently published a paper on gene.iobio, we are excited to announce a publication describing the clin.iobio tool as part of the Journal of Personalized Medicine's Special Issue on Precision Medicine in Clinical Practice. Clin.iobio has been developed by the iobio team in Prof. Gabor Marth's lab at the University of Utah, with collaboration from Frameshift. Clin.iobio has been built to ...
Mosaic allows users to add as much genomic data (CRAM, BAM, VCF) as they want to their Mosaic projects. This is true for paid accounts but surprisingly this is also true for free accounts (if you haven't already you can sign up and go crazy right now). ...