BOL: Related items

NextSV: a meta-caller for structural variants from low-coverage long-read sequencing data

Jit — Mon, 06 Aug 2018 17:24:53 -0500

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 analysis purpose. The output of NextSV is in ANNOVAR-compatible bed format. Users can easily perform downstream annotation using ANNOVAR and disease gene discovery using Phenolyzer.

Address of the bookmark: https://github.com/Nextomics/NextSV

sim3C: Read-pair simulation of 3C-based sequencing methodologies (HiC, Meta3C, DNase-HiC)

Jit — Tue, 13 Nov 2018 07:25:38 -0600

Required python modules

biopython
intervaltree
numpy
scipy
tqdm
PyYAML

Address of the bookmark: https://github.com/cerebis/sim3C

Prof. Dr. med. Andreas Ramming

Wed, 07 Aug 2019 03:25:48 -0500

In many autoimmune diseases, a misdirected immune response leads to chronic inflammation and subsequently to fibrotic and degenerative tissue remodeling. Therapeutic options are available for inflammatory joint diseases, but only about 40% of patients respond to these existing therapies on a permanent basis. In the remaining cases, these therapies miss their target from the beginning or later during the course of treatment failure. There are currently no causal therapies available for the treatment of fibrotic autoimmune diseases such as systemic sclerosis. Therefore, there is an urgent need to develop new therapeutic options for the treatment of fibrotic and synovitic autoimmune diseases. His group is therefore deal with the molecular mechanisms of these misdirected signaling pathways for the development of novel, targeted therapies

http://www.medizin3.uk-erlangen.de/forschung/arbeitsgruppen/matrixbiologie-entzuendliche-signalwege-in-arthritis-und-fibrose/

McClintock: Meta-pipeline to identify transposable element insertions using next generation sequencing data

BioStar — Tue, 27 Oct 2020 00:21:18 -0500

an integrated bioinformatics pipeline for the detection of TE insertions in whole-genome shotgun data, called McClintock (https://github.com/bergmanlab/mcclintock), which automatically runs and standardizes output for multiple TE detection methods. We demonstrate the utility of McClintock by evaluating six TE detection methods using simulated and real genome data from the model microbial eukaryote, Saccharomyces cerevisiae.

Address of the bookmark: https://github.com/bergmanlab/mcclintock

Single Cell RNAseq data analysis tutorial !!

Robert M Willioms — Mon, 27 Nov 2017 16:24:29 -0600

A major breakthrough (replaced microarrays) in the late 00’s and has been widely used since
Measures the average expression level for each gene across a large population of input cells
Useful for comparative transcriptomics, e.g. samples of the same tissue from different species
Useful for quantifying expression signatures from ensembles, e.g. in disease studies
Insufficient for studying heterogeneous systems, e.g. early development studies, complex tissues (brain)
Does not provide insights into the stochastic nature of gene expression

Following are the useful links:

Single Cell RNAseq data analysis Tutorial

A step-by-step workflow for low-level analysis of single-cell RNA-seq data

A step-by-step workflow for low-level analysis of single-cell RNA-seq data with Bioconductor

SCell: single-cell RNA-seq analysis software

https://github.com/diazlab/SCell

Beta-Poisson model for single-cell RNA-seq data analyses

https://github.com/nghiavtr/BPSC

Sincera: A Computational Pipeline for Single Cell RNA-Seq Profiling Analysis

https://research.cchmc.org/pbge/sincera.html

SC3 – consensus clustering of single-cell RNA-Seq data

http://biorxiv.org/content/early/2016/09/02/036558

Citrus: A toolkit for single cell sequencing analysis

http://biorxiv.org/content/early/2016/09/14/045070

Single-Cell Resolution of Temporal Gene Expression during Heart Development

http://www.cell.com/developmental-cell/fulltext/S1534-5807(16)30682-7

Scalable latent-factor models applied to single-cell RNA-seq data separate biological drivers from confounding effects

http://biorxiv.org/content/early/2016/11/15/087775

Single cell transcriptomes identify human islet cell signatures and reveal cell-type-specific expression changes in type 2 diabetes

http://genome.cshlp.org/content/early/2016/11/18/gr.212720.116.abstract

SCODE: An efficient regulatory network inference algorithm from single-cell RNA-Seq during differentiation

http://biorxiv.org/content/early/2016/11/21/088856

SCOUP is a probabilistic model to analyze single-cell expression data during differentiation

https://github.com/hmatsu1226/SCOUP

scLVM is a modelling framework for single-cell RNA-seq data

https://github.com/PMBio/scLVM

Selective Locally linear Inference of Cellular Expression Relationships (SLICER) algorithm for inferring cell trajectories

https://github.com/jw156605/SLICER

SinQC: A Method and Tool to Control Single-cell RNA-seq Data Quality

http://www.morgridge.net/SinQC.html

TSCAN: Pseudo-time reconstruction and evaluation in single-cell RNA-seq analysis

https://github.com/zji90/TSCAN

Visualization and cellular hierarchy inference of single-cell data using SPADE

http://www.nature.com/nprot/journal/v11/n7/full/nprot.2016.066.html

OEFinder: Identify ordering effect genes in single cell RNA-seq data

https://github.com/lengning/OEFinder

Artificial intelligence is more accurate than doctors in diagnosing breast cancer

BioStar — Wed, 01 Jan 2020 22:12:34 -0600

Artificial intelligence is more accurate than doctors in diagnosing breast cancer from mammograms, a study in the journal Nature suggests.

An international team, including researchers from Google Health and Imperial College London, designed and trained a computer model on X-ray images from nearly 29,000 women.

The algorithm outperformed six radiologists in reading mammograms.

AI was still as good as two doctors working together.

Unlike humans, AI is tireless. Experts say it could improve detection. Read More: https://www.bbc.com/news/health-50857759

dna2bit: an ultra-fast and accurate genomic distance estimation software

LEGE — Sun, 31 Aug 2025 06:24:58 -0500

dna2bit is a software tool developed in C++11, leveraging the capabilities of OpenMP for parallel computing and the popcount technique for efficient bit manipulation. It has been thoroughly tested using the g++ and clang compilers on both Linux and MacOS platforms.

Address of the bookmark: https://github.com/lijuzeng/dna2bit

Cleaner BLAST Databases for More Accurate Results

LEGE — Tue, 23 Apr 2024 01:23:08 -0500

Do you use BLAST to identify a sequence or the evolutionary scope of a gene? That can be challenging if contaminated and misclassified sequences are in the BLAST databases and show up in your search results. To address this problem, we now use the NCBI quality assurance tools listed below to systematically remove these misleading sequences from the default nucleotide (nt) and protein (nr) BLAST databases.

Foreign Contamination Screen tool for genome cross-species screening (FCS-GX) detects contamination from foreign organisms in genomes and other sequences using the genome cross-species aligner (GX)
Average Nucleotide Identity (ANI) evaluates the taxonomic classification of prokaryotic genome assemblies. Sequences from genomes marked up as ‘unverified source organism’ are considered suspect and removed.

Ref https://ncbiinsights.ncbi.nlm.nih.gov/2024/04/22/cleaner-blast-databases-more-accurate-results/

Tadpole: an assembler, error-corrector, and read-extender

BioStar — Tue, 04 Feb 2020 23:35:40 -0600

Tadpole is a kmer-based assembler, with additional capabilities of error-correcting and extending reads. It does not do any complicated graph analysis or scaffolding, and therefore, is not particularly good for diploid organisms. Tadpole is very conservative and optimized for correctness rather than length; which is to say, it stops at every branch, and condenses every repeat. Also, it does not currently do scaffolding.

To error-correct reads:
tadpole.sh in=reads.fq out=corrected.fq mode=correct

To extend reads by 50bp in each direction:
tadpole.sh in=reads.fq out=extended.fq mode=extend el=50 er=50

To error-correct and extend at the same time, using a kmer length of 62:
tadpole.sh in=reads.fq out=extended.fq mode=extend el=50 er=50 k=62 ecc=t

More at http://seqanswers.com/forums/showthread.php?t=61445

Address of the bookmark: https://jgi.doe.gov/data-and-tools/bbtools/bb-tools-user-guide/tadpole-guide/

Omega2: metagenome assembly pipeline

Jit — Mon, 10 Jul 2017 05:56:07 -0500

Omega found overlaps between reads using a prefix/suffix hash table. The overlap graph of reads was simplified by removing transitive edges and trimming short branches. Unitigs were generated based on minimum cost flow analysis of the overlap graph and then merged to contigs and scaffolds using mate-pair information. In comparison with three de Bruijn graph assemblers (SOAPdenovo, IDBA-UD and MetaVelvet), Omega provided comparable overall performance on a HiSeq 100-bp dataset and superior performance on a MiSeq 300-bp dataset. In comparison with Celera on the MiSeq dataset, Omega provided more continuous assemblies overall using a fraction of the computing time of existing overlap-layout-consensus assemblers. This indicates Omega can more efficiently assemble longer Illumina reads, and at deeper coverage, for metagenomic datasets.

Address of the bookmark: http://omega.omicsbio.org/