BOL: Related items

SLIDESORT-BPR

Abhimanyu Singh — Mon, 20 Nov 2017 09:19:52 -0600

Chromosomal rearrangement events are caused by abnormal breaking and rejoining of DNA molecules. They are responsible for many of the cancer related diseases. Detecting the DNA breaking and repairing mechanism, therefore, may offer vital clues about the pathologic causes and diagnostic/therapeutic target of these diseases. But this effort also poses considerable challenges, because the structural variations and the genomes are different from one person to another. Intermediate comparison via reference genome could lead to the loss information. Unlike the current methods which make use the reference genome, we developed a method to detect the breakpoint reads directly from observing the differences between two (or more) NGS short reads samples. Slidesort-BPR is a command line tool implemented in C++.

Address of the bookmark: https://github.com/ewijaya/slidesort-bpr

TAREAN: A computational tool for identification and characterization of satellite DNA from unassembled short reads

Surabhi Chaudhary — Tue, 15 May 2018 02:53:11 -0500

TAndem REpeat ANalyzer -TAREAN – is a computational pipeline for unsupervised identification of satellite repeats from unassembled sequence reads. The pipeline uses low-pass whole genome sequence reads and performs their graph-based clustering. Resulting clusters, representing all types of repeats, are then examined for the presence of circular structures and putative satellite repeats are reported.

How to use TAREAN:

Install a local instance of the pipeline using its source code available from bitbucket repository.
Use public Galaxy-based server at https://repeatexplorer-elixir.cerit-sc.cz/. The server is provided in frame of the Elixir CZ project and is maintained by CESNET and CERIT-SC. Simple registration is required to use this service.

Development of TAREAN was supported by ELIXIR CZ research infrastructure project (MEYS Grant No: LM2015047).

References

Novak, P., Avila Robledillo, L., Koblizkova, A., Vrbova, I., Neumann, P., Macas, J. (2017) – TAREAN: a computational tool for identification and characterization of satellite DNA from unassembled short reads. Nucleic Acids Res., doi:10.1093/nar/gkx257

Address of the bookmark: https://bitbucket.org/petrnovak/repex_tarean

RopeBWT2: Incremental construction of FM-index for DNA sequences

Rahul Nayak — Thu, 25 Oct 2018 04:48:54 -0500

RopeBWT2 is an tool for constructing the FM-index for a collection of DNA sequences. It works by incrementally inserting one or multiple sequences into an existing pseudo-BWT position by position, starting from the end of the sequences. This algorithm can be largely considered a mixture of BCR and dynamic FM-index. Nonetheless, ropeBWT2 is unique in that it may implicitlysort the input into reverse lexicographical order (RLO) or reverse-complement lexicographical order (RCLO) while building the index.

Address of the bookmark: https://github.com/lh3/ropebwt2

ENCODE3: A collection of research articles and related content describing the Encyclopedia of DNA Elements, its datasets and tools.

Shruti Paniwala — Sat, 08 Aug 2020 08:25:21 -0500

How cells, tissues and organisms interpret the information encoded in the genome has vital implications for our understanding of development, health and disease. Launched in 2003, the ENCyclopedia Of DNA Elements (ENCODE) project has the aim of mapping the functional elements in the human genome (later expanded to include model organisms).

During the first phase of ENCODE, published in 2007, microarray-based technologies were used to detect regions associated with transcription factors, certain histone modifications and open chromatin within a pre-specified 1% of the human genome.

ENCODE’s second phase saw a switch to sequencing-based technologies, the addition of new assay types and the analysis of functional elements genome-wide, described in a collection of research articles in 2012.

The Encyclopedia paper of ENCODE 3, published in Nature, gives an overview of the various assays that were performed in human and mouse cell lines and tissues and describes a Registry of human and mouse candidate cis-regulatory elements (cCREs).

More at https://www.nature.com/immersive/d42859-020-00027-2/index.html

MetaGraph: Ultra Scalable Framework for DNA Search, Alignment, Assembly

Abhi — Sat, 08 Jun 2024 16:15:25 -0500

The MetaGraph framework is designed to work with a wide range of input data sets, indexing from a few samples up to the contents of entire archives with hundreds of thousands of records. The indexing workflow always follows the same principle, transforming single input samples into error-removed, refined sample graphs, which are then merged into a joint metagraph index. Each input sample is annotated in the joint index as a subgraph. This graph index enriched with metadata can then be used for downstream applications such as sequence search or differential assembly.

Searcg link https://metagraph.ethz.ch/search

Pre-print https://www.biorxiv.org/content/10.1101/2020.10.01.322164v4

Address of the bookmark: https://metagraph.ethz.ch/

Biological databases !

BioStar — Wed, 12 Feb 2020 01:16:29 -0600

Now a days there are a lots of genomics databases available around the world. This bookmark is created to provide all links in one place ...

ftp://ftp.ncbi.nih.gov/genomes/

https://hgdownload.soe.ucsc.edu/downloads.html

Address of the bookmark: ftp://ftp.ncbi.nih.gov/genomes/

NgAgo challenge CRISPR !!

Abhimanyu Singh — Tue, 17 May 2016 03:31:32 -0500

A recent Nature Biotechnology paper from Chunyu Han’s lab, DNA-guided genome editing using the Natronobacterium gregoryi Argonaute, is a must-read for genome editing folks who want to learn about NgAgo. Their team sums up NgAgo’s potential pluses this way (emphasis mine):

“The useful features of NgAgo for genome editing include the following.First, it has a low tolerance to guide–target mismatch. A single nucleotide mismatch at each position of the gDNA impaired the cleavage efficiency of NgAgo, and mismatches at three positions completely blocked cleavage in our experiments. Second, 5′ phosphorylated short ssDNAs are rare in mammalian cells, which minimizes the possibility of cellular oligonucleotides misguiding NgAgo.Third, NgAgo follows a ‘one-guide-faithful’ rule, that is, a guide can only be loaded when NgAgo protein is in the process of expression, and, once loaded, NgAgo cannot swap its gDNA with other free ssDNA at 37 °C. All of these features could minimize off-target effects. Finally, it is easy to design and synthesize ssDNAs and to adjust their concentration, which is difficult with the Cas9-sgRNA system, if the sgRNA is expressed from a plasmid and the normal dosage of an ssDNA guide is only ~1/10 of that of a sgRNA expression plasmid.

NgAgo might be a more orderly way and perhaps even simpler way to go about genome editing than CRISPR, but the jury is still out on that until there are more papers and data. The NgAgo edit efficiency at this preliminary stage of technology development seems very strong. See the pics below

Reference: http://www.nature.com/nbt/journal/vaop/ncurrent/full/nbt.3547.html

MGERT: Mobile Genetic Elements Retrieving Tool

Neel — Sat, 18 May 2019 08:58:01 -0500

MGERT is a computational pipeline for easy retrieving of MGE's coding sequences of a particular family from genome assemblies. MGERT utilizes several established bioinformatic tools combined into single pipeline which hides different technical quirks from an inexperienced user.

Address of the bookmark: https://github.com/andrewgull/MGERT

Flanker

Rahul Nayak — Sat, 27 Feb 2021 22:04:53 -0600

Flanker, a Python package which performs alignment-free clustering of gene flanking sequences in a consistent format, allowing investigation of mobile genetic elements (MGEs) without prior knowledge of their structure. Flanker can be flexibly parameterised to finetune outputs by characterising upstream and downstream regions separately and investigating variable lengths of flanking sequence.

Address of the bookmark: https://github.com/wtmatlock/flanker

The 10th North East Bioinformatics Network (NEBINet) Annual Coordinators' Meet

Jit — Sat, 18 Nov 2017 15:02:44 -0600

The 10th North East Bioinformatics Network (NEBINet) Annual Coordinators' Meet organised by the Bioinformatics Centre, St Edmund's College, Shillong and sponsored by the Department of Biotechnology, Government of India, was held at St Edmund's College Auditorium here on Thursday. Meghalaya Governor Ganga Prasad graced the inaugural programme as chief guest.
In his inaugural address, the Governor said the panorama of scientific scenario has greatly changed over the years, the thrust areas have undergone a metamorphosis but the conceptual underpinning of the basic sciences still continues.
"Of late, the activity of basic research has been intricately intertwined with technology. And we are determined to carry forward this change, for it is through technology that science can actually reach the masses in our country and afar, and the changing times have also inculcated a culture of cross-departmental and interdisciplinary research. Science and technology has always played a pivotal role in taking a nation towards greater heights by ways of innovations and inventions," he added.
Prasad also hoped that discussions, suggestions and sharing of innovative ideas during the two-day 10th NEBINet Annual Coordinators' Meet will open up new avenues to make substantial advancement in Biological Sciences which will provide a platform for proper and effective delivery mechanism for the common man.
During the inaugural function, Advisor of Department of Biotechnology Dr T Madhan Mohan gave an overview of the NEBINet and Bioinformatics programme.
President of Epygen Biotech FZ LLC, Dubai, UAE, Dr Debayan Ghosh, delivered the keynote address.
St Edmund's College governing body secretary Brother Simon Coelho and St Edmund's College Principal Dr Sylvanus Lamare also spoke during the function.