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ClinCNV: Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data
By Neel 2244 days agogithub.com - ClinCNV detects CNVs in germline and somatic context in NGS data (targeted and whole-genome). We work in cohorts, so it makes sense to try ClinCNV if you have more than 10 samples (recommended amount - 40 since we estimate variances from...McClintock: Meta-pipeline to identify transposable element insertions using next generation...
By BioStar 1960 days agogithub.com - an integrated bioinformatics pipeline for the detection of TE insertions in whole-genome shotgun data, called McClintock (https://github.com/bergmanlab/mcclintock), which automatically runs and standardizes output for multiple TE detection methods....lordFAST: sensitive and Fast Alignment Search Tool for LOng noisy Read sequencing Data
By BioJoker 2660 days agogithub.com - lordFAST is a sensitive tool for mapping long reads with high error rates. lordFAST is specially designed for aligning reads from PacBio sequencing technology but provides the user the ability to change alignment parameters depending on the reads...cutadapt
By Radha Agarkar 3588 days agocutadapt.readthedocs.io - Cutadapt finds and removes adapter sequences, primers, poly-A tails and other types of unwanted sequence from your high-throughput sequencing reads. Cleaning your data in this way is often required: Reads from small-RNA sequencing contain the...GAM-NGS: genomic assemblies merger for next generation sequencing
By Jit 3217 days agogithub.com - GAM-NGS is a tool able to merge two or more assemblies in order to improve contiguity and correctness. It can be used on all NGS-based assembly projects and it shows its full potential with multi-library Illumina-based projects. With more than 20...Scientist Bioinformatics Positions
Bioinformatics-Multi_Omics_Integration https://www.researchgate.net/job/939073_Senior_Scientist_Bioinformatics-Multi_Omics_Integration Senior_Scientist_Bioinformatics-Transcriptomics_Analysis...Choosing the Right NGS Sequencing Instrument for Your Study
By Neel 1364 days agogenohub.com - The right sequencing instrument for your study depends on your project goal. Setting aside turnaround time and price, it essentially comes down to the numbers of reads and read length you need for your experiment. Below, we've described and compared...AIRVF: a filtering toolbox for precise variant calling in Ion Torrent sequencing
By BioStar 3000 days agosourceforge.net - AIRVF that works on flowgram, raw and mapped reads and called variants to reduce artifact-driven false variant calls. Tests on sequencing data of standard reference material showed up to ∼98% reduction of false variants when combined to...Minda: a tool for evaluating structural variant (SV) callers
By LEGE 709 days agogithub.com - Minda is a tool for evaluating structural variant (SV) callers that standardizes VCF records for compatibility with both germline and somatic SV callers, benchmarks against a single VCF input file, or benchmarks against an ensemble call set...truvari: Structural variant comparison tool for VCFs
By Jit 2079 days agogithub.com - Structural variant comparison tool for VCFs Given benchmark and comparsion sets of SVs, calculate the recall, precision, and f-measure. Spiral Genetics Motivation
