Abhimanyu Singh
A bioinformatics beginner
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NextSV: a meta-caller for structural variants from low-coverage long-read sequencing data
By Jit 2300 days agogithub.com - NextSV, a meta SV caller and a computational pipeline to perform SV calling from low coverage long-read sequencing data. NextSV integrates three aligners and three SV callers and generates two integrated call sets (sensitive/stringent) for different...JASMINE: Jointly Accurate Sv Merging with Intersample Network Edges
By Shruti Paniwala 874 days agogithub.com - This tool is used to merge structural variants (SVs) across samples. Each sample has a number of SV calls, consisting of position information (chromosome, start, end, length), type and strand information, and a number of other values. Jasmine...SViper: Swipe your Structural Variants called on long (ONT/PacBio) reads with short exact...
By Neel 1798 days agogithub.com - Call sviper ~$ ./sviper -s short-reads.bam -l long-reads.bam -r ref.fa -c variants.vcf -o polished_variants This will output a polished_variants.vcf file, that contains all the refined variants. Sometimes it is helpful to look at the...Hagfish - assess an assembly through creative use of coverage plots
By Abhi 3108 days agogithub.com - Hagfish is a tool that is to be used in data analysis of Next Generation Sequencing (NGS) experiments. Hagfish builds on the concept of coverage plots and aims to assist (amongst others) in quality control of de novo genome assembly or...MALVA: Genotyping by Mapping-free ALlele Detection of Known VAriants
By Jit 1761 days agogithub.com - MALVA is able to genotype multi-allelic SNPs and indels without mapping reads MALVA calls correctly more indels than the most widely adopted genotyping pipelines Mapping-free approaches are as accurate as alignment-based ones, while being...SVEngine: Allele Specific and Haplotype Aware Structural Variants Simulator
By Jit 1602 days ago Comments (1)bitbucket.org - SVEngine (Structural Variants Engine) SVEngine is a multi-purpose and self-contained simulator for whole genome scale spike-in of thousands of SV events of various types in both single-sample and matched sample scenarios. SVEngine takes as input...Comparison of Short Read De Novo Alignment Algorithms
By Rahul Agarwal 4111 days agobiochem218.stanford.edu - Excellent article to introduce different sequencing methods along with tools for de novo assembly of sequencing reads and their relevant references. Title: Comparison of Short Read De Novo Alignment Algorithms Author: Nikhil Gopalcoursera genome assembly tutorial
By Jit 2554 days agogithub.com - Solutions to Coursera Genome Sequencing (Bioinformatics II)COPE: an accurate k-mer-based pair-end reads connection tool to facilitate genome assembly
By Jit 2544 days agoftp.genomics.org.cn - An efficient tool called Connecting Overlapped Pair-End (COPE) reads, to connect overlapping pair-end reads using k-mer frequencies. We evaluated our tool on 30× simulated pair-end reads from Arabidopsis thaliana with 1% base error. COPE...3d-dna: 3D de novo assembly (3D DNA) pipeline
By Jit 2521 days agogithub.com - This code is designed to enable anyone to reproduce the Hs2-HiC and the AaegL4 genomes reported in: Dudchenko et al., De novo assembly of the Aedes aegypti genome using Hi-C yields chromosome-length scaffolds. Science, 2017. Unless otherwise...
