BOL: Related items

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?

lordFAST: sensitive and Fast Alignment Search Tool for LOng noisy Read sequencing Data

BioJoker — Tue, 27 Nov 2018 04:43:57 -0600

lordFAST is a sensitive tool for mapping long reads with high error rates. lordFAST is specially designed for aligning reads from PacBio sequencing technology but provides the user the ability to change alignment parameters depending on the reads and application.

lordFAST, a novel long-read mapper that is specifically designed to align reads generated by PacBio and potentially other SMS technologies to a reference. lordFAST not only has higher sensitivity than the available alternatives, it is also among the fastest and has a very low memory footprint.

Address of the bookmark: https://github.com/vpc-ccg/lordfast

CLARK: Fast, accurate and versatile sequence classification system

Jit — Sat, 15 Feb 2020 01:49:01 -0600

CLARK, a method based on a supervised sequence classification using discriminative k-mers. Considering two distinct specific classification problems (see the article for details), namely (1) the taxonomic classification of metagenomic reads to known bacterial genomes, and (2) the assignment of BAC clones and transcript to chromosome arms/centromeres (in the absence of a finished assembly for the reference genome), CLARK outperforms in classification speed and precision the best state-of-the-art methods.

http://clark.cs.ucr.edu/Spaced/

Address of the bookmark: http://clark.cs.ucr.edu/Spaced/

P_RNA_scaffolder: a fast and accurate genome scaffolder using paired-end RNA-sequencing reads

BioStar — Fri, 07 Sep 2018 05:19:06 -0500

P_RNA_scaffolder is a novel scaffolding tool using Pair-end RNA-seq to scaffold genome fragments. The method is suitable for most genomes. The program could utilize Illumina Paired-end RNA-sequencing reads from target speciesies. Our method provides another practical alternative to existing mate-pair_based approaches or other Protein-based approaches (for instance, PEP_scaffolder ) for scaffolding genome sequences. The most important feature of this method is to improve the completeness of gene regions and long-coding gene regions (for instance, circRNA).

Address of the bookmark: http://www.fishbrowser.org/software/P_RNA_scaffolder/#

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

LSC :a long read error correction tool

Jit — Thu, 02 Aug 2018 07:39:46 -0500

Getting Started

These simple steps will help you integrate LSC into your transcriptomics analysis pipeline.

Read the LSC_requirements for running LSC.
Download and set-up the LSC package.
Follow the tutorial to see how LSC works on some example data.
Read the manual if anything is unclear.
You're ready, Happy LSCing!

Latest publication

Kin Fai Au, Jason Underwood, Lawrence Lee and Wing Hung Wong
Improving PacBio Long Read Accuracy by Short Read Alignment [Manuscript]
PLoS ONE 2012. 7(10): e46679. doi:10.1371/journal.pone.0046679

Address of the bookmark: https://www.healthcare.uiowa.edu/labs/au/LSC/

COPE: an accurate k-mer-based pair-end reads connection tool to facilitate genome assembly

Jit — Wed, 06 Dec 2017 02:08:14 -0600

An efficient tool called Connecting Overlapped Pair-End (COPE) reads, to connect overlapping pair-end reads using k-mer frequencies. We evaluated our tool on 30× simulated pair-end reads from Arabidopsis thaliana with 1% base error. COPE connected over 99% of reads with 98.8% accuracy, which is, respectively, 10 and 2% higher than the recently published tool FLASH. When COPE is applied to real reads for genome assembly, the resulting contigs are found to have fewer errors and give a 14-fold improvement in the N50 measurement when compared with the contigs produced using unconnected reads.

Address of the bookmark: ftp://ftp.genomics.org.cn/pub/cope

Flye: Fast and accurate de novo assembler for single molecule sequencing reads

BioJoker — Tue, 02 Apr 2019 21:54:55 -0500

Flye is a de novo assembler for single molecule sequencing reads, such as those produced by PacBio and Oxford Nanopore Technologies. It is designed for a wide range of datasets, from small bacterial projects to large mammalian-scale assemblies. The package represents a complete pipeline: it takes raw PB / ONT reads as input and outputs polished contigs. Flye also includes a special mode for metagenome assembly.

Address of the bookmark: https://github.com/fenderglass/Flye

Liftoff: an accurate tool that maps annotations in GFF or GTF between assemblies

Jit — Tue, 30 Jun 2020 21:40:52 -0500

Liftoff, an accurate tool that maps annotations in GFF or GTF between assemblies of the same, or closely-related species. Unlike current coordinate lift-over tools which require a pre-generated “chain” file as input, Liftoff is a standalone tool that takes two genome assemblies and a reference annotation as input and outputs an annotation of the target genome.

Address of the bookmark: https://github.com/agshumate/Liftoff

SneakySnake: A Fast and Accurate Universal Genome Pre-Alignment Filter for CPUs, GPUs, and FPGAs

Neel — Sun, 20 Dec 2020 01:39:54 -0600

The first and the only pre-alignment filtering algorithm that works efficiently and fast on modern CPU, FPGA, and GPU architectures. SneakySnake greatly (by more than two orders of magnitude) expedites sequence alignment calculation for both short (Illumina) and long (ONT and PacBio) reads. Described by Alser et al. (preliminary version at https://arxiv.org/abs/1910.09020).

Address of the bookmark: https://github.com/CMU-SAFARI/SneakySnake