1140 days ago
Computer simulation of genetic mechanism !!
...w.uhnresearch.ca/labs/tillier/software.htm#3 SimRare Rare variant simulation and analysis tool...for the simulation of the introduction and evolution of (rare) genetic variants. http://simupop.sourceforge....2976 days ago
Structural variation: the hidden genomic treasure
... The mostāstudied structural variants are copy number variations (...consequences. Structural variants (SVs) such as deletions, ins...of new detection methods, smaller variants (between 50 and 1000 base pa...iscovery of unbalanced structural variants (copy-number variants) with...2703 days ago
DAVI: Deep learning-based tool for alignment and single nucleotide variant identification
DAVI consists of models for both global and local alignment and for variant calling. We have evaluated the performance of DAVI against existing state-of-the-art tool sets and found th...1147 days ago
Next Generation Sequencing (NGS) Tutorials
...ww.isb-sib.ch/training/training-activities-schedule/archive-2013.html Variant Detection (Model organism) Ad...ogle.com/document/pub?id=1CuKkKylVDb03tnN7RSWl5EUzleetn0ctjmvaidPKLxM Variant Detection Introductory tutori...3488 days ago
Bioinformatics approach to Boar Taint
...steroids which is objectionable to many consumers. Detected functional variant(s) underlying boar taint comp...identified QTL regions on SSC5,13, and 7 with the aid of FreeBayes , a variant caller tool. A final list of...3790 days ago
3945 days ago
Genome Assembly Tools and Software - PART2 !!
...reads in a SAM file and a set of variant calls in VCF format, HAPCOMPA...ash; Genome Shotgun Assembler and Variant CallerDISCOVAR is a whol...tection and Assembly of Insertion VariantsMindTheGap is a software...a simple error correction, viral variants assembling based on maximum-...2686 days ago
3947 days ago
Useful Publications and Websites for Deep Sequencing Data Analysis
...escribes the RSEM software package] Comparing genomes and assemblies; variant detection Versatile and ope...ata. Krawitz et al, Bioinformatics 26(6):722-9, 2010. Full Text vipR: variant identification in pooled DNA...3780 days ago
Roche has acquired Bina Technologies !!!
...mpany based in California. The biotech’s first product was the Bina Box, a platform for secondary genomic analysis, sequence alignment, and variant calling, but since 2012, it h...3414 days ago
Webinar on 'An integrated RNA and DNA approach to unravel genetic regulation in cancer'
...Mutations in the genome result in diverse transcriptional aberrations that can be missed in a stand-alone WES/WGS analysis. An integration of DNA variant analysis and RNA-Seq analysis...3372 days ago
Human Genome Meeting 2014, Geneva, Switzerland
...the genome sequence of each individual. The biomedical world is now faced with the enormous challenges of assigning pathogenicity to each genomic variant, the functional analysis of t...3880 days ago
Biinformamatics Lead at Google Life Sciences
...in broad kinds of individual and population data. Develop novel platform-level analytical tools for sequence-based assays (assembly, annotation, variant calling and interpretation, p...3489 days ago
2076 days ago
2061 days ago
Comment on "Coronavirus Resources !"
...oV-2 Interagency Group (SIG) developed a Variant Classification scheme that defines three classes of SARS-CoV-2 variants: Variant of Interest Var...on https://www.cdc.gov/coronavirus/2019-ncov/variants/variant-info.html961 days ago
Comment on "Calling variants in non-diploid systems"
FreeBayes is widely used for calling variants in diploid systems. However, it can also be used for calling variants in pooled samples where the...tion of FreeBayes to generate frequency-based variant calls as well as some other o...1044 days ago