Shruti Paniwala
A Bioinformatician
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Calling variants in non-diploid systems
By Neel 1813 days ago Comments (1)training.galaxyproject.org - The main challenge associated with non-diploid variant calling is the difficulty in distinguishing between the sequencing noise (abundant in all NGS platforms) and true low frequency variants. Some of the early attempts to do this well have been...Ensembl Variation - Calculated variant consequences
By Jit 2834 days agowww.ensembl.org - For each variant that is mapped to the reference genome, we identify all overlapping Ensembl transcripts. We then use a rule-based approach to predict the effects that each allele of the variant may have on each transcript. The set of consequence...karyoploteR: plot whole genomes with arbitrary data
By Abhimanyu Singh 3053 days agobernatgel.github.io - karyoploteR is an R package to create karyoplots, that is, representations of whole genomes with arbitrary data plotted on them. It is inspired by the R base graphics system and does not depend on other graphics packages. The aim of karyoploteR...Scripts for the analysis of HGT in genome sequence data.
By Jit 3118 days agogithub.com - Scripts for the analysis of HGT in genome sequence dataHeap: a highly sensitive and accurate SNP detection tool for low-coverage high-throughput...
By Jit 2977 days agogithub.com - Heap, that enables robustly sensitive and accurate calling of SNPs, particularly with a low coverage NGS data, which must be aligned to the reference genome sequences in advance. To reduce false positive SNPs, Heap determines genotypes and calls...VariantBam: Filtering and profiling of next-generational sequencing data using region-specific rules
By Rahul Nayak 2809 days agogithub.com - VariantBam is a tool to extract/count specific sets of sequencing reads from next-generational sequencing files. To save money, disk space and I/O, one may not want to store an entire BAM on disk. In many cases, it would be more efficient to store...nQuire: A statistical framework for ploidy estimation using NGS short-read data
By Jit 2690 days agogithub.com - nQuire implements a set of commands to estimate ploidy level of individuals from species, where recent polyploidization occurred and intraspecific ploidy variation is observed. Specifically, nQuire uses next-generation sequencing data to distinguish...
Commercial and public next-gen-seq (NGS) software
Last updated 4288 days ago by Partek Comments (7)Integrated solutions CLCbio Genomics Workbench - de novo and reference assembly of Sanger, Roche FLX, Illumina, Helicos, and SOLiD data. Commercial next-gen-seq software that extends the CLCbio Main Workbench software. Includes SNP detection,...A powerful, yet simple, gene set analysis tool for interpreting RNA-seq and NGS results.
By Shani 4244 days agoLifeMap Sciences is introducing GeneAnalytics, our new gene set analysis tool, which is applicable for NGS results and differentially expressed gene lists from variable sources. GeneAnalytics provides gene associations with tissues &...Rosalind Bioinformatics problems !!!
By Abhi 4195 days agorosalind.info - Rosalind is a platform for learning bioinformatics and programming through problem solving. Take a tour to get the hang of how Rosalind works. http://rosalind.info/problems/list-view/
