Shruti Paniwala
A Bioinformatician
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Variant Calling Resequencing-Based Genome Inference
By Abhi 116 days agoevomics.org - Variant Calling - Resequencing-Based Genome Inference Erik GarrisonUniversity of Tennessee Health Science CenterWorkshop on Genomics - Český KrumlovJanuary 12,...geck: trio-based comparative benchmarking of variant calls
By Jit 2015 days agogithub.com - Determine the accuracy of our model by comparing the precision and recall of GATK Unified Genotyper and Haplotype Caller on the high-confidence SNPs of the NIST Ashkenazim trio and the two independent Platinum Genome trios. We show that our method...Minda: a tool for evaluating structural variant (SV) callers
By LEGE 238 days agogithub.com - Minda is a tool for evaluating structural variant (SV) callers that standardizes VCF records for compatibility with both germline and somatic SV callers, benchmarks against a single VCF input file, or benchmarks against an ensemble call set...Epiviz: an interactive visualization tool for functional genomics data.
By Jit 2330 days agohttps://epiviz.github.io/ - Epiviz is an interactive visualization tool for functional genomics data. It supports genome navigation like other genome browsers, but allows multiple visualizations of data within genomic regions using scatterplots, heatmaps and other...EXCAVATOR: detecting copy number variants from whole-exome sequencing data
By Radha Agarkar 2151 days agosourceforge.net - EXCAVATOR, for the detection of copy number variants (CNVs) from whole-exome sequencing data. EXCAVATOR combines a three-step normalization procedure with a novel heterogeneous hidden Markov model algorithm and a calling method that classifies...Trelliscope: flexibly visualize large, complex data in great detail from within the R statistical...
By Jit 1769 days agodeltarho.org - Trelliscope provides a way to flexibly visualize large, complex data in great detail from within the R statistical programming environment. Trelliscope is a component in the DeltaRho environment. For those familiar with Trellis...pbmm2:A minimap2 frontend for PacBio native data formats
By BioStar 1741 days agogithub.com - pbmm2 is a SMRT C++ wrapper for minimap2's C API. Its purpose is to support native PacBio in- and output, provide sets of recommended parameters, generate sorted output on-the-fly, and postprocess alignments. Sorted output can be used directly for...DADA2: Fast and accurate sample inference from amplicon data with single-nucleotide resolution
By Jit 1474 days agobenjjneb.github.io - The DADA2 tutorial goes through a typical workflow for paired end Illumina Miseq data: raw amplicon sequencing data is processed into the table of exact amplicon sequence variants (ASVs) present in each sample. The DADA2...Ktrim: an extra-fast and accurate adapter- and quality-trimmer for sequencing data
By Jit 1381 days agogithub.com - Ktrim is written in C++ for GNU Linux/Unix platforms. After uncompressing the source package, you can find an executable file ktrim under bin/ directory compiled using g++ v4.8.5 and linked with libz...PLAR: Pipeline for lncRNA annotation from RNA-seq data
By Abhi 1052 days agowww.weizmann.ac.il - Due to several requests, we are releasing an assingment of orthologs, determined using the same methods used in Hezroni et al. (BLAST, Whole Genome Alignment (WGA), and synteny). One is comparing human GENCODE genes (from GENCODE v30) to lncRNAs...
