BOL: Related items

ClinCNV: Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data

Neel — Thu, 16 Jan 2020 23:16:02 -0600

ClinCNV detects CNVs in germline and somatic context in NGS data (targeted and whole-genome). We work in cohorts, so it makes sense to try ClinCNV if you have more than 10 samples (recommended amount - 40 since we estimate variances from the data). By "cohort" we mean samples sequenced with the same enrichment kit with approximately the same depth (ie 1x WGS and 30x WGS better be analysed in separate runs of ClinCNV). Of course it is better if your samples were sequenced within the same sequencing facility.

Address of the bookmark: https://github.com/imgag/ClinCNV

kSNP3.0: SNP detection and phylogenetic analysis of genomes without genome alignment or reference genome

Jit — Fri, 08 Dec 2017 16:48:40 -0600

Sept. 20, 2017 Version 3.1 released. Major upgrade. Version 3.1 fixes the problems with SNP annotation that arose when NCBI discontinued use of GI numbers. Please read carefully the Preface (page 3) and the File of annotated genomes section (pages 9-10) in the version 3.1 User Guide. Thanks to Tom Slezak for revsing the get_genbank_file3 script and to Tod Stuber (USDA) for testing version 3.1 even though he doesn't need the annotation feature. All users are encouraged to upgrade to version 3.1.

Address of the bookmark: https://sourceforge.net/projects/ksnp/files/

Platypus – R package for object detection and image segmentation.

BioStar — Mon, 09 Nov 2020 02:56:25 -0600

platypus is an R package for object detection and semantic segmentation. Currently using

platypus you can perform:

multi-class semantic segmentation using U-Net architecture
multi-class object detection using YOLOv3 architecture

You can install the latest version of platypus with remotes package:

remotes::install_github("maju116/platypus")

Note that in order to install platypus you need to install keras and tensorflow packages and Tensorflow version >= 2.0.0 ( Tensorflow 1.x will not be supported!)

Address of the bookmark: https://github.com/maju116/platypus

The Hidden Pages of Our DNA

LEGE — Sat, 05 Sep 2026 01:04:22 -0500

Imagine opening the instruction manual for life.

It is enormous, billions of letters long. Some of those letters are easy to understand because they contain instructions for building proteins, the tiny machines that keep our cells alive.

But what if some of the most important instructions aren't in those obvious chapters?

Scientists have long suspected that the mysterious stretches of DNA between protein-coding genes may contain some of life's most interesting secrets. These regions can act like switches, telling genes when, where, and how strongly to turn on. Among them are conserved non-coding elements, or CNEs DNA sequences that have remained remarkably similar across different species.

Think of a CNE as a sentence that nature has copied into several editions of the same book.

A mouse has it.

A bird has it.

A human has it.

And despite millions of years of evolution, much of the sentence remains almost unchanged.

That conservation is a clue: this piece of DNA probably matters.

But there was a problem. Finding these hidden sentences across enormous genomes is difficult. Researchers needed to compare many genomes, identify conserved regions, and then determine which of those regions might have evolved unusually quickly in particular branches of the evolutionary tree.

Enter CNEwrap. https://github.com/YanCCscu/CNEwrap

The researchers developed CNEwrap as a streamlined toolkit capable of handling large-scale genome comparisons, conserved-element detection, and evolutionary analysis. Inside it is a new algorithm called EvoAcc, designed to identify CNEs that show accelerated evolution in specific species or lineages.

Why does that matter?

Because evolution isn't just about what stays the same.

Sometimes, the most interesting story is hidden in what changed.

Imagine that nearly every species carries the same regulatory sentence, but one lineage suddenly has several unusual edits. Perhaps those changes helped shape a new body structure, a different adaptation, or another distinctive trait.

EvoAcc is designed to help researchers find these evolutionary clues. In the study's tests, it performed particularly well in scenarios involving two or three accelerated lineages and showed improved sensitivity to insertion and deletion mutations compared with several existing approaches.

The researchers also tested CNEwrap using functional genomic regions from mammals and found that EvoAcc could recover human-specific accelerated regions while identifying some signals that other methods missed.

So the story of CNEwrap is really a story about looking beyond the obvious.

For decades, scientists have often focused on the DNA that directly encodes proteins. But the genome is more like a vast library: the protein-coding genes are the main text, while non-coding regions may contain punctuation, instructions, switches, annotations, and editing notes that tell the cell how to read the book.

CNEwrap gives researchers a new way to search that hidden material.

And perhaps somewhere inside those billions of DNA letters is an evolutionary story we haven't read yet.

The exciting part is that we now have better tools to find it.

Read more about it https://academic.oup.com/nar/article/54/14/gkag709/8738333?

MimicrEE2: Genome-wide forward simulations of Evolve and Resequencing studies

Jit — Fri, 28 Sep 2018 09:21:14 -0500

MimicrEE2, a multi-threaded Java program for genome-wide forward simulations of evolving populations. MimicrEE2 enables the convenient usage of available genomic resources, supports biological particulars of model organism frequently used in E&R studies and offers a wide range of different adaptive models (selective sweeps, polygenic adaptation, epistasis). MimicrEE2 runs on any computer with Java installed. It is distributed under the GPLv3 license at https://sourceforge.net/projects/mimicree2/.

Address of the bookmark: https://sourceforge.net/projects/mimicree2/

Nucl2Vec: Local alignment of DNA sequences using Distributed Vector Representation

Jit — Tue, 16 Mar 2021 05:45:44 -0500

We demonstrate a novel approach forlocal alignment of DNA reads with respect to reference genome.For this process we have used Skip-gram model for creatingencoding(Nucl2Vec) and k-nearest neighbor for the alignment.With our new approach we have reduced computation cost forlocal alignment , while achieving accuracy comparable to existingdefacto standard BWA-MEM tool.

https://prakharg24.github.io/papers/401851.full.pdf

Address of the bookmark: https://prakharg24.github.io/papers/401851.full.pdf

Basics of BLAST Programs !

BioStar — Fri, 26 Jul 2024 06:04:26 -0500

The Basic Local Alignment Search Tool (BLAST) is a powerful bioinformatics program used to compare an input sequence (such as DNA, RNA, or protein sequences) against a database of sequences to find regions of similarity. Developed by the National Center for Biotechnology Information (NCBI), BLAST is widely used for identifying species, finding functional and evolutionary relationships between sequences, and predicting the function of novel sequences.

Key Features of BLAST:
1. Sequence Comparison: BLAST searches for local alignments between the query sequence and sequences in a database. It identifies regions of similarity, which can help infer functional and evolutionary relationships.

2. Speed and Efficiency: BLAST uses heuristic algorithms, making it faster than exhaustive search methods, suitable for large-scale database searches.

3. Versatility: There are several versions of BLAST for different types of sequence comparisons:
- blastn: Compares a nucleotide query sequence against a nucleotide sequence database.
- blastp: Compares a protein query sequence against a protein sequence database.
- blastx: Compares a nucleotide query sequence translated in all reading frames against a protein sequence database.
- tblastn: Compares a protein query sequence against a nucleotide sequence database translated in all reading frames.
- tblastx: Compares the six-frame translations of a nucleotide query sequence against the six-frame translations of a nucleotide sequence database.

4. Scoring and E-value: BLAST results are scored based on the quality and length of the alignments. The E-value (expect value) indicates the number of alignments one can expect to find by chance, with lower E-values representing more significant matches.

5. Output Formats: BLAST provides results in various formats, including plain text, HTML, XML, and JSON, making it adaptable for different types of analyses and integrations with other tools.

Applications of BLAST:
- Genomic Research: Identifying genes, understanding genetic diversity, and mapping genome sequences.
- Protein Function Prediction: Inferring the function of unknown proteins by comparing them to known protein sequences.
- Evolutionary Studies: Exploring evolutionary relationships between organisms by comparing their genetic material.
- Medical Research: Identifying pathogens, understanding disease mechanisms, and developing treatments by comparing sequences of interest.

Overall, BLAST is an essential tool in bioinformatics, offering a reliable and efficient way to analyze and interpret biological sequence data.

STELLAR: fast and exact local alignments

Neel — Wed, 29 Aug 2018 16:00:46 -0500

STELLAR is very practical and fast on very long sequences which makes it a suitable new tool for finding local alignments between genomic sequences under the edit distance model. Binaries are freely available for Linux, Windows, and Mac OS X at http://www.seqan.de/projects/stellar.

Address of the bookmark: http://www.seqan.de/apps/stellar/

ClipCrop: a tool for detecting structural variations with single-base resolution using soft-clipping information

BioJoker — Sun, 20 Jan 2019 06:34:36 -0600

ClipCrop for detecting SVs with single-base resolution using soft-clipping information. A soft-clipped sequence is an unmatched fragment in a partially mapped read. To assess the performance of ClipCrop with other SV-detecting tools, we generated various patterns of simulation data – SV lengths, read lengths, and the depth of coverage of short reads – with insertions, deletions, tandem duplications, inversions and single nucleotide alterations in a human chromosome.

Address of the bookmark: https://github.com/shinout/clipcrop

vsFilt: A tool to improve virtual screening by structural filtration of docking poses

Neel — Wed, 25 Nov 2020 02:39:16 -0600

The vsFilt is the first open application for post-docking structural filtration, available as a web-server. The new tool is easy to use and configure to detect a wide range of interaction types that are known to be involved in molecular recognition, including hydrogen and halogen bonds, ionic interactions, hydrophobic contacts, π-stacking, and cation-π interactions. The web-server can process large libraries of up to 150’000 docked ligand poses. The results are web-based and can be operated on-line using the built-in HTML5 interactive analysis tools, or can be downloaded for a local use. The vsFilt is freely available on-line, no login required.

Address of the bookmark: https://biokinet.belozersky.msu.ru/vsfilt