BOL: Related items

ASCIIGenome: genome browser based on command line interface and designed for running from console terminals.

Neel — Fri, 09 Nov 2018 13:50:04 -0600

ASCIIGenome is a genome browser based on command line interface and designed for running from console terminals.

Since ASCIIGenome does not require a graphical interface it is particularly useful for quickly visualizing genomic data on remote servers while offering flexibility similar to popular GUI viewers like IGV.

Documentation is at readthedocs/asciigenome.

Address of the bookmark: https://github.com/dariober/ASCIIGenome

SDA: Long-read sequence and assembly of segmental duplications

Jit — Tue, 05 Mar 2019 10:00:57 -0600

Segmental Duplication Assembler (SDA; https://github.com/mvollger/SDA) constructs graphs in which paralogous sequence variants define the nodes and long-read sequences provide attraction and repulsion edges, enabling the partition and assembly of long reads corresponding to distinct paralogs.

https://github.com/mvollger/SDA

Address of the bookmark: https://www.nature.com/articles/s41592-018-0236-3

URMAP, an ultra-fast read mapper

Jit — Thu, 29 Oct 2020 23:03:54 -0500

URMAP, a new read mapping algorithm. URMAP is an order of magnitude faster than BWA with comparable accuracy on several validation tests. On a Genome in a Bottle (GIAB) variant calling test with 30× coverage 2×150 reads, URMAP achieves high accuracy (precision 0.998, sensitivity 0.982 and F-measure 0.990) with the strelka2 caller. However, GIAB reference variants are shown to be biased against repetitive regions which are difficult to map and may therefore pose an unrealistically easy challenge to read mappers and variant callers.

More at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7320720/

Address of the bookmark: https://github.com/rcedgar/urmap

NanoSim: nanopore sequence read simulator based on statistical characterization.

Jit — Mon, 18 Dec 2017 04:16:31 -0600

NanoSim, a fast and scalable read simulator that captures the technology-specific features of ONT data and allows for adjustments upon improvement of nanopore sequencing technology. The first step of NanoSim is read characterization, which provides a comprehensive alignment-based analysis and generates a set of read profiles serving as the input to the next step, the simulation stage. The simulation stage uses the model built in the previous step to produce in silico reads for a given reference genome. NanoSim is written in Python and R. The source files and manual are available at the Genome Sciences Centre website: http://www.bcgsc.ca/platform/bioinfo/software/nanosim

https://github.com/bcgsc/NanoSim

Address of the bookmark: http://www.bcgsc.ca/platform/bioinfo/software/nanosim

Nanopolis: polish a genome assembly

Rahul Nayak — Thu, 26 Jul 2018 04:51:28 -0500

Software package for signal-level analysis of Oxford Nanopore sequencing data. Nanopolish can calculate an improved consensus sequence for a draft genome assembly, detect base modifications, call SNPs and indels with respect to a reference genome and more (see Nanopolish modules, below).

Quickstart

http://nanopolish.readthedocs.io/en/latest/quickstart_consensus.html

Algorithms

http://simpsonlab.github.io/2017/06/30/nanopolish-v0.7.0/

Address of the bookmark: https://github.com/jts/nanopolish

Yau Group

Tue, 15 Oct 2013 13:05:15 -0500

Yau Group are a new research group based at the Wellcome Trust Centre for Human Genetics and the Department of Statistics at the University of Oxford.

Yau Group develops statistical and computational methods for the analysis of genomic datasets with a particular interest in cancer sequencing applications and the use of Bayesian Statistics.

Yau Group are currently have projects in somatic mutation analysis of heterogeneous cancers, data fusion or integration techniques and single cell genomics.

More @ http://www.well.ox.ac.uk/~cyau/index.html

Professor of Bioinformatics

Sat, 15 Aug 2026 12:39:03 -0500

The Department of Statistics are seeking to recruit a Professor of Bioinformatics. The professorship will be held alongside a Fellowship at University College.

The Department is at the forefront of developments in machine learning, data science, and computational methods for understanding complex biological systems, integrating these approaches into both its research and teaching. This role offers significant scope to shape the future of bioinformatics and quantitative biology at Oxford and beyond.

You will be expected to develop and lead a world-class research programme in bioinformatics, helping to strengthen Oxford's position in areas such as statistical genomics, computational biology, machine learning for biological data, engineering biology, systems biology, and biomedical data science. We value the breadth of approaches that contribute to modern bioinformatics. Whatever your particular focus, you will understand how quantitative and computational methods can be applied to important biological and biomedical questions, and how collaboration across disciplines can generate new insights and opportunities. Alongside your own research, you will support the development of doctoral students, postdoctoral researchers, and early-career academics. You will contribute to our teaching at undergraduate and postgraduate level, delivering lectures, supervising student projects, and supporting graduate research students.

We are looking for someone who combines scholarly distinction with a collaborative and ambitious approach to research. You will be a researcher with an international reputation in bioinformatics, with a strong record of producing influential research at the interface of statistics, computational biology, genomics, and data science, and of securing research funding. Your work should advance the field, whether through methodological innovation, biological discovery, or the development of new approaches to understanding complex biological and biomedical data. You will bring experience of shaping research strategy, building productive collaborations, and exercising academic leadership. Above all, we wish to appoint someone who shares our values of intellectual curiosity, academic excellence, scholarly integrity, and a commitment to fostering a positive, supportive, and inclusive environment for all.

If you would like to discuss this post, please contact the Head of the Department of Statistics, Professor Frank Windmeijer, frank.windmeijer@stats.ox.ac.uk, or for information about University College please contact the Senior Tutor, Dr Andrew Bell, andrew.bell@univ.ox.ac.uk. All enquiries will be treated in strict confidence and will not form part of the selection decision.

The closing date for applications is 12:00 noon UK time on Monday 21 September 2026. Interviews are expected to be held in November 2026.

Apply here https://my.corehr.com/pls/uoxrecruit/erq_jobspec_version_4.display_form

PBSuite: Software for Long-Read Sequencing Data from PacBio

Jit — Mon, 27 Feb 2017 09:54:47 -0600

PBJelly - the genome upgrading tool.
PBHoney - the structural variation discovery tool

Both are contained within the PBSuite code found in downloads.

----- PBJelly -----
Read The Paper
http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0047768

PBJelly is a highly automated pipeline that aligns long sequencing reads (such as PacBio RS reads or long 454 reads in fasta format) to high-confidence draft assembles. PBJelly fills or reduces as many captured gaps as possible to produce upgraded draft genomes.

----- PBHoney -----
Read The Paper
http://www.biomedcentral.com/1471-2105/15/180/abstract

PBHoney is an implementation of two variant-identification approaches designed to exploit the high mappability of long reads (i.e., greater than 10,000 bp). PBHoney considers both intra-read discordance and soft-clipped tails of long reads to identify structural variants.

Address of the bookmark: https://sourceforge.net/projects/pb-jelly/

MashMap: a fast and approximate software for mapping long reads (PacBio/ONT) or assembly to reference genome(s)

Jit — Tue, 12 Dec 2017 17:23:31 -0600

MashMap is a fast and approximate software for mapping long reads (PacBio/ONT) or assembly to reference genome(s). It maps a query sequence against a reference region if and only if its estimated alignment identity is above a specified threshold. It does not compute the alignments explicitly, but rather estimates a k-mer based Jaccard similarity using a combination of Winnowing and MinHash. This is then converted to an estimate of sequence identity using the Mash distance. An appropriate k-mer sampling rate is automatically determined given minimum local alignment length and identity thresholds. The efficiency of the algorithm improves as both of these thresholds are increased.

Address of the bookmark: https://github.com/marbl/MashMap

LoRMA: A tool for correcting sequencing errors in long reads

Abhimanyu Singh — Thu, 06 Sep 2018 16:21:01 -0500

An error correction method that uses long reads only. The method consists of two phases: first, we use an iterative alignment-free correction method based on de Bruijn graphs with increasing length of k-mers, and second, the corrected reads are further polished using long-distance dependencies that are found using multiple alignments. According to our experiments, the proposed method is the most accurate one relying on long reads only for read sets with high coverage. Furthermore, when the coverage of the read set is at least 75×, the throughput of the new method is at least 20% higher.

conda install -c atgc-montpellier lorma

Address of the bookmark: https://gite.lirmm.fr/lorma/lorma-releases/wikis/home