Jit
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ClinCNV: Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data
By Neel 2452 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 2168 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 2868 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...How to sequence the human genome - Mark J. Kiel
By Rahul Nayak 4510 days agoView full lesson: http://ed.ted.com/lessons/how-to-sequence-the-human-genome-mark-j-kiel Your genome, every human's genome, consists of a unique DNA sequence of A's, T's, C's and G's that tell your cells how to operate. Thanks to technological...Scaffolding of a bacterial genome using MinION nanopore sequencing
By Rahul Agarwal 4106 days agowww.nature.com - Second generation sequencing has revolutionized genomic studies. However, most genomes contain repeated DNA elements that are longer than the read lengths achievable with typical sequencers, so the genomic order of several generated contigs cannot...Jvarkit : Java utilities for Bioinformatics
By Jit 3040 days agolindenb.github.io - Collection of Java tool kits for bioinformatics works: Jvarkit : Java utilities for BioinformaticsnQuire: a statistical framework for ploidy estimation using next generation sequencing
By Jit 2922 days agogithub.com - nQuire provides a statistical framework to study organisms with intraspecific variation in ploidy. nQuire is likely to be useful in epidemiological studies of pathogens, artificial selection experiments, and for historical or ancient samples where...1mb long DNA with Nanopore technology
By Jit 3210 days agoLongest read of 1mb achievements with Nanoporejackalope: A swift, versatile phylogenomic and high-throughput sequencing simulator
By Abhimanyu Singh 2627 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 2441 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),...
