BOL: Related items

Epiviz: an interactive visualization tool for functional genomics data.

Jit — Mon, 09 Jul 2018 05:27:39 -0500

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 user-supplied visualizations. It also includes data from the Gene Expression Barcode project for transcriptome visualization. It has a flexible plugin framework so users can addd3 visualizations. You can see a video tour here.

https://bioconductor.org/packages/release/bioc/html/epivizr.html

https://github.com/epiviz

https://github.com/epiviz/epiviz

Address of the bookmark: https://epiviz.github.io/

VariantBam: Filtering and profiling of next-generational sequencing data using region-specific rules

Rahul Nayak — Thu, 04 Oct 2018 16:30:44 -0500

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 only those read-pairs or reads who intersect some region around the variant locations. Alternatively, if your scientific question is focused on only one aspect of the data (e.g. breakpoints), many reads can be removed without losing the information relevant to the problem.

Address of the bookmark: https://github.com/broadinstitute/VariantBam

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Radha Agarkar — Fri, 04 Jan 2019 10:10:48 -0600

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 genomic regions into five copy number states. We validate EXCAVATOR on three datasets and compare the results with three other methods. These analyses show that EXCAVATOR outperforms the other methods and is therefore a valuable tool for the investigation of CNVs in largescale projects, as well as in clinical research and diagnostics. EXCAVATOR is freely available at http://sourceforge.net/projects/excavatortool/.

EXCAVATOR is a novel software package for the detection of copy number variants (CNVs) from whole-exome sequencing data.
EXCAVATOR has been published on Genome Biology (http://genomebiology.com/2013/14/10/R120/abstract).

Address of the bookmark: https://sourceforge.net/projects/excavatortool/

nQuire: A statistical framework for ploidy estimation using NGS short-read data

Jit — Thu, 31 Jan 2019 05:12:19 -0600

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 between diploids, triploids and tetraploids, on the basis of frequency distributions at variant sites where only two bases are segregating.

For more background see also the publication at BMC Bioinformatics.

https://github.com/clwgg/nQuire

Address of the bookmark: https://github.com/clwgg/nQuire

Trelliscope: flexibly visualize large, complex data in great detail from within the R statistical programming environment.

Jit — Tue, 21 Jan 2020 04:22:49 -0600

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 Display, faceting in ggplot, or the notion of small multiples, Trelliscope provides a scalable way to break a set of data into pieces, apply a plot method to each piece, and then arrange those plots in a grid and interactively sort, filter, and query panels of the display based on metrics of interest. With Trelliscope, we are able to create multipanel displays on data with a very large number of subsets and view them in an interactive and meaningful way.

Address of the bookmark: http://deltarho.org/docs-trelliscope/#introduction

pbmm2:A minimap2 frontend for PacBio native data formats

BioStar — Tue, 18 Feb 2020 03:36:22 -0600

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 polishing using GenomicConsensus, if BAM has been used as input to pbmm2. Benchmarks show that pbmm2 outperforms BLASR in sequence identity, number of mapped bases, and especially runtime. pbmm2 is the official replacement for BLASR.

Address of the bookmark: https://github.com/PacificBiosciences/pbmm2

Useful links to therapy, disease, drug and drug-target network data:

Jit — Mon, 01 Jun 2020 11:47:51 -0500

Useful links to therapy, disease, drug and drug-target network data:

DrugBank:

a bioinformatics- cheminformatics resource combining detailed drug data with comprehensive drug target information with >4900 drug (~3500 experimental) and >1500 non-redundant protein entries http://www.drugbank.ca/

Drug-Target Network:

network data of 890 drugs and 394 target human proteins http://www.nature.com/nbt/journal/v25/ n10/suppinfo/nbt1338_S1.html

Drug-Therapy Network:

three layers of drug-therapy networks according to the ATC classification http://www.biomedcentral.com/1471-2210/8/5/additional/

FDA Orange Book:

approved drug products with therapeutic equivalence evaluations http://www.fda.gov/cder/ob/HIDdb: Thomson Investigational drugs database including information on 107000 patents, 25000 investigational drugs and 80000 chemical structures http://scientific.thomson.com/products/iddb/HOMIM: a knowledgebase of human genes and genetic disorders http://www.ncbi.nlm.nih.gov/ sites/entrez?db=omim

PDTD:

3D drug target structure database with a target identification option http://www.dddc.ac.cn/pdtd/

Predicted drug targets:

a set of 1383 predicted drug targets http://www.biomedcentral.com/1471-2105/8/353/additional/ [25] Protein ligand network: a network of 4208 ligands and ~15000 binding sites http://pbil.kaist.ac.kr/~parkkw/Lnet/

TDR Targets Database:

identification and ranking targets against neglected tropical diseases http://tdrtargets.org/

Therapeutic Target Database:

lists >1500 therapeutic targets, disease conditions and corresponding drugs http://xin.cz3.nus.edu.sg/group/cjttd/ttd.asp

MAGIC: A tool for predicting transcription factors and cofactors driving gene sets using ENCODE data

BioStar — Thu, 26 Nov 2020 11:05:04 -0600

The algorithm presented herein, Mining Algorithm for GenetIc Controllers (MAGIC), uses ENCODE ChIP-seq data to look for statistical enrichment of TFs and cofactors in gene bodies and flanking regions in gene lists without an a priori binary classification of genes as targets or non-targets. When compared to other TF mining resources, MAGIC displayed favourable performance in predicting TFs and cofactors that drive gene changes in 4 settings:

1) A cell line expressing or lacking single TF,

2) Breast tumors divided along PAM50 designations

3) Whole brain samples from WT mice or mice lacking a single TF in a particular neuronal subtype

4) Single cell RNAseq analysis of neurons divided by Immediate Early Gene expression levels.

In summary, MAGIC is a standalone application that produces meaningful predictions of TFs and cofactors in transcriptomic experiments.

More at https://uwmadison.app.box.com/s/8j90e5h2rjrsz3bacaxnq8kor2o64vyg

Address of the bookmark: https://github.com/asroopra/MAGIC

OrthoVenn3: an integrated platform for exploring and visualizing orthologous data across genomes

Abhi — Tue, 02 May 2023 00:48:28 -0500

OrthoVenn3 is a powerful tool for comparative genomics analysis, used as a web server for full genome comparisons, annotation, and evolutionary analysis of orthologous clusters across multiple species. It has already been used by thousands of users from over 60 countries.

Address of the bookmark: https://orthovenn3.bioinfotoolkits.net/

Figeno: Tool for plotting sequencing data along genomic coordinates.

LEGE — Tue, 17 Sep 2024 02:28:15 -0500

Tool for plotting sequencing data along genomic coordinates.

FIGENO is a
  FIGure
    GENerator
for GENOmics

With figeno, you can plot various types of sequencing data along genomic coordinates. Video overview: https://www.youtube.com/watch?v=h1cBeXoSYTA.

Address of the bookmark: https://github.com/CompEpigen/figeno