Shruti Paniwala
A Bioinformatician
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SNPGenie
By Jit 2795 days agogithub.com - SNPGenie is a Perl script for estimating evolutionary parameters, mainly from pooled next-generation sequencing (NGS) single-nucleotide polymorphism (SNP) variant data. SNP reports (acceptable in a variety of formats) much each correspond to a...RAINBOWR: Reliable Association INference By Optimizing Weights with R (R package for SNP-set GWAS...
By Surabhi Chaudhary 1730 days agogithub.com - RAINBOWR(Reliable Association INference By Optimizing Weights with R) is a package to perform several types of GWAS as follows. Single-SNP GWAS with RGWAS.normal function SNP-set (or gene set) GWAS with RGWAS.multisnp function (which tests...Snakemake workflow: dna-seq-gatk-variant-calling
By Jit 1948 days agogithub.com - This Snakemake pipeline implements the GATK best-practices workflow for calling small genomic variants.Best Practices for Variant Calling with the GATK
By biogeek 1736 days agowww.broadinstitute.org - The presentations below were filmed during the March 2015 GATK Workshop, part of the BroadE Workshop series. At the time of this workshop, the current version of Broad’s Genome Analysis Toolkit (GATK) was version...AIRVF: a filtering toolbox for precise variant calling in Ion Torrent sequencing
By BioStar 2528 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...The new corona variant has 23 mutations in all, which is unusually huge !
By Shruti Paniwala 1431 days agoThe new SARS-CoV-2 version, B.1.1.7, which was first seen in the third week of September in Kent and Greater London, has since spread to other locations in the UK.cisMuton: caller that detects SNVs/indels by comparing target (foreground) and control (background)...
By Jit 1747 days agostatic.ciscall.org - cisMuton is a caller that detects SNVs/indels by comparing target (foreground) and control (background) samples. cisMuton calls mutations from target capture regions, which are defined by the overlapping regions...Automatic Filtering, Trimming, Error Removing and Quality Control for fastq data
By Rahul Nayak 2567 days agogithub.com - Automatic Filtering, Trimming, Error Removing and Quality Control for fastq dataAfterQC can simply go through all fastq files in a folder and then output three folders: good, bad and QC folders, which contains good...MinION_GC: An R script to do some QC on MinION data
By Radha Agarkar 2547 days agogithub.com - Other tools focus on getting data out of the fastq or fast5 files, which is slow and computationally intensive. The benefit of this approach is that it works on a single, small, .txt summary file. So it's a lot quicker than most other things out...NextSV: a meta-caller for structural variants from low-coverage long-read sequencing data
By Jit 2301 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...
