Software and Tools to detect structure variation with long reads !!
...) Improved inversion calling (screenInversions) Quality metric for SV calls based on number of local assemblies supporting each call Higher sensitivity for SV calls using tiled local assemblies...2617 days ago
Bioinformatics tools for telomere to telomere assembly !
...uence variants (Yuanyuan Cheng @Yuanyuan929)● svpack – tools for filtering, comparing, and annotating structural variant (SV) calls in VCF format (Aaron Wenger)●...1001 days ago
Public Databases for Bioinformatics !
...chown /mnt/lab_data/$LAB/ lab accessible data should store lab project data here e.g. ATAC-seq prediction data, enhancer prediction, motif calls /srv/scratch/$USER fast l...1148 days ago
3498 days ago
Genome Assembly Tools and Software - PART2 !!
...uence reads in a SAM file and a set of variant calls in VCF format, HAPCOMPASS wil...n generate high quality assemblies and variant calls from the latest 250 base Illu...rage AutoEditor corrects 80% of erroneous base calls, with an accuracy of 99.99%.T...2695 days ago
Awesome perl frameworks, libraries and software - PART 2
...l practicability. swannman/pdf2gerb - Perl script converts PDF files to Gerber format substack/dnode-perl - Asynchronous remote method calls with transparently wrapped ca...2503 days ago
3955 days ago
List of Bioinformatics Software Tools for Next Generation Sequencing
...Dindel Description: (Wellcome Trust Sanger) calls small indels from short-read...eity from high-throughput sequencing datasets; calls variants found in <.05% of...Description: Bayesian method; combines variant calls from different methods (GATK,...2918 days ago
3556 days ago
3314 days ago
Biology, Computers Collide in High-Demand Field of Bioinformatics
Dr. Shivas Amin calls bioinformatics a "collision of biology and computers." Students learn how to use computers and skills in math and biology to analyze genome and proteome...3551 days ago
2084 days ago
geck: trio-based comparative benchmarking of variant calls
Determine the accuracy of our model by comparing the precision and recall of GATK Unified Genotyper and Haplotype Caller on the high-confidence SNPs of the NIST Ashkenazim trio and the two independent Platinum Genome trios. We show that our method is able to estimate differential precis...Tags: geck, trio-based, comparative, benchmarking, variant, calls
1822 days ago
Tags: Parliament2, structural, variant, calls, whole-genome, sequencing, data, NGS
1447 days ago
Comment on "Benchmarking Perl Module !"
...dule. This program should take the form of a subroutine that runs the code you want to benchmark. Here's an example of a benchmark subroutine that calls a function from a hypothetica...425 days ago
Comment on "Calling variants in non-diploid systems"
...s, but we do not know exactly how many. Thus we will use the --pooled-continuous option of FreeBayes to generate frequency-based variant calls as well as some other options1053 days ago