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ClinCNV: Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data
By Neel 1803 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...Postdoctoral scientist genome analytics/ genome bioinformatics (m/f/*)
https://www.uksh.de/jobs/Stellenangebote-nr-20190570-p-8.html Your profile: Degree in bioinformatics, biostatistics, or equivalent Experience in the processing and analysis of large-scale genomics data using compute clusters / high-performance...Choosing the Right NGS Sequencing Instrument for Your Study
By Neel 923 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...
Libraries or management tools for high throughput sequencing data
Last updated 81 days ago by LEGEGATB Library. The Genome Analysis Toolbox with de-Bruijn graph. A large part of tools developed by the GenScale team are based on this library.These methods enable the analysis of data sets of any size on multi-core desktop...-
My commonly used commands in Bioinformatics
Last updated 2343 days ago by Rahul NayakFYI, I've found it useful to use MUMmer to extract the specific changes that Racon makes, so I can evaluate them individually: minimap -t 24 assembly.fasta long_reads.fastq.gz | racon -t 24 long_reads.fastq.gz - assembly.fasta... Referee: Genome assembly quality scores
By Jit 2241 days agogwct.github.io - Modern genome sequencing technologies provide a succint measure of quality at each position in every read, however all of this information is lost in the assembly process. Referee summarizes the quality information from the reads that map to a site...jackalope: A swift, versatile phylogenomic and high-throughput sequencing simulator
By Abhimanyu Singh 1978 days agogithub.com - jackalope simply and efficiently simulates (i) variants from reference genomes and (ii) reads from both Illumina and Pacific Biosciences (PacBio) platforms. It can either read reference genomes from FASTA files or simulate new ones. Genomic variants...Kevler: Reference-free variant discovery in large eukaryotic genomes
By Jit 1792 days agogithub.com - Welcome to kevlar, software for predicting de novo genetic variants without mapping reads to a reference genome! kevlar's k-mer abundance based method calls single nucleotide variants (SNVs), multinucleotide variants (MNVs),...Scallop: reference-based transcriptome assembler for RNA-seq
By Rahul Nayak 2422 days agogithub.com - Scallop is an accurate reference-based transcript assembler. Scallop features its high accuracy in assembling multi-exon transcripts as well as lowly expressed transcripts. Scallop achieves this improvement through a novel algorithm that can be...Modular, efficient and constant-memory single-cell RNA-seq preprocessing
By Jit 1358 days ago Comments (1)pachterlab.github.io - With kallisto | bustools you can Generate a cell x gene or cell x transcript equivalence class count matrix Perform RNA velocity and single-nuclei RNA-seq analsis Quantify data from numerous technologies such as...
