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snakepipes: A toolkit based on snakemake and python for analysis of NGS data
By Jit 2040 days agogithub.com - snakePipes are flexible and powerful workflows built using snakemake that simplify the analysis of NGS data. DNA-mapping* ChIP-seq* RNA-seq* ATAC-seq* scRNA-seq Hi-C Whole Genome Bisulfite Seq/WGBS (*Also available in...The 8000 years old Tibetian gene mutation !!!
By Neel 3783 days agoA study led by University of Utah scientists is the first to find a genetic cause for the adaptation, a single DNA base pair change that dates back 8,000 years and demonstrate how it contributes to the Tibetans' ability to live in low oxygen...ClinCNV: Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data
By Neel 1808 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...LoFreq*: A sequence-quality aware, ultra-sensitive variant caller for NGS data
By BioStar 1776 days agocsb5.github.io - LoFreq* (i.e. LoFreq version 2) is a fast and sensitive variant-caller for inferring SNVs and indels from next-generation sequencing data. It makes full use of base-call qualities and other sources of errors inherent in sequencing (e.g. mapping or...FiNGS: Filters for Next Generation Sequencing
By Neel 1401 days agogithub.com - Key features Filters SNVs from any variant caller to remove false positives Calculates metrics based on BAM files and provides filtering not possible with other tools Fully user-configurable filtering (including which filters to use and their...
Libraries or management tools for high throughput sequencing data
Last updated 86 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 2348 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 2246 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...pybedtools
By Shruti Paniwala 3784 days agopybedtools is a Python wrapper for Aaron Quinlan's BEDtools programsjackalope: A swift, versatile phylogenomic and high-throughput sequencing simulator
By Abhimanyu Singh 1983 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...
