BOL: Related items

DAGchainer: Computing Chains of Syntenic Genes in Complete Genomes

Abhimanyu Singh — Fri, 17 Feb 2017 16:13:35 -0600

The DAGchainer software computes chains of syntenic genes found within complete genome sequences. As input, DAGchainer accepts a list of gene pairs with sequence homology along with their genome coordinates. Using a scoring function which accounts for the distance between neighboring genes on each DNA molecule and the BLAST E-value score between homologs, maximally scoring chains of ordered gene pairs are computed and reported. This algorithm can be used to mine large evolutionary conserved regions of genomes between two organisms. Alternatively, by examining colinear sets of homologous genes found within a single genome, segmental genome duplications can be revealed.

This software distribution includes both the DAGchainer utility and a Java-based graphical interface that allows the inputs and outputs to be navigated and interrogated dynamically.

Address of the bookmark: http://dagchainer.sourceforge.net/

dipSPAdes: Assembler for Highly Polymorphic Diploid Genomes.

Jit — Wed, 20 Dec 2017 18:35:16 -0600

While the number of sequenced diploid genomes have been steadily increasing in the last few years, assembly of highly polymorphic (HP) diploid genomes remains challenging. As a result, there is a shortage of tools for assembling HP genomes from the next generation sequencing (NGS) data. The initial approaches to assembling HP genomes were proposed in the pre-NGS era and are not well suited for NGS projects. To address this limitation, we developed the first de Bruijn graph assembler, dipSPAdes, for HP genomes that significantly improves on the state-of-the-art assemblers for HP diploid genomes.

Address of the bookmark: https://www.ncbi.nlm.nih.gov/pubmed/25734602

598 Indian Genomes from 55 ethnic groups Sequenced

Jit — Fri, 13 Dec 2019 20:31:42 -0600

This study reports sequence from 1,267 individuals that includes 598 individuals representing 55 ethnic groups that span the major language groups across India.

Importantly, this study found many large population groups from India in which individuals were more related to each other by descent. These groups are similar to the Finnish population group where many disease gene discoveries were made. The Finnish-equivalent Indian groups are going to be a great resource for disease gene discovery and they will aid in target identification, drug development and disease management.

This study has identified many genetic variants that are specific to Indian population groups that were previously not known. Some of these are common variants in the Indian groups, but when first identified by previous studies from India involving smaller sample size, they were thought to be disease causing (for example in diabetes) as they were not represented in the Eurocentric variant database.

Several variants that pre-dispose individuals to higher cancer risk were identified in this study. Once this part of the work is expanded, the data from this can be used to screen individuals to understand the disease risk and provide appropriate monitoring and proactive treatment. Similarly, variants linked to increase in adverse effect in individuals for certain drugs were found. Understanding this will allow doctors to provide alternate safer drugs to such patients.

More at https://www.nature.com/articles/s41586-019-1793-z

https://www.nature.com/nature/volumes/576/issues/7785

1000 Genomes Chile Project

LEGE — Thu, 08 Aug 2024 01:24:13 -0500

Welcome to Chile Sequence to Chile: A Genomic Exploration Project for the Future Genomics, the science that deciphers the complexity of DNA, immerses us in the world of life at its most basic level. On this journey into the depths of genetic information, we find the 1000 Genomes Chile Project, an initiative that seeks to explore and understand the genetic wealth of our country.

Deciphering Life at the Molecular Level DNA sequencing is the key that opens the door to invaluable knowledge. By understanding the genes that make up Chilean species, we unravel the secrets of their evolution, their resistance and their adaptation to the environment. In a world where biodiversity faces constant threats, sequencing becomes crucial for the conservation and understanding of our natural heritage.

Involving Everyone: A Nationwide Effort The 1000 Genomes Chile Project is not just a task for scientists. It is a country-wide effort that seeks the participation of everyone: from citizens to the government to the private sector. We believe in the importance of sharing knowledge, involving society in the selection of species to sequence, in monitoring progress and in applying the results to preserve our environment.

Address of the bookmark: https://1000genomas.cl/

Genomicus: genome browser that enables users to navigate in genomes in several dimensions

Jit — Sat, 18 Nov 2017 16:10:16 -0600

Genomicus is a genome browser that enables users to navigate in genomes in several dimensions: linearly along chromosome axes, transversaly across different species, and chronologicaly along evolutionary time.

Once a query gene has been entered, it is displayed in its genomic context in parallel to the genomic context of all its orthologous and paralogous copies in all the other sequenced metazoan genomes. Moreover, Genomicus stores and displays the predicted ancestral genome structure in all the ancestral species within the phylogenetic range of interest.

All the data on extant species displayed in this browser are from Ensembl.

Address of the bookmark: http://genomicus.biologie.ens.fr/genomicus-90.01/cgi-bin/search.pl

HGT-Finder: A New Tool for Horizontal Gene Transfer Finding and Application to Aspergillus genomes

Jit — Wed, 17 Jan 2018 05:03:19 -0600

HGT-Finder:

(i) can be used for HGT detection in both prokaryotes and eukaryotes,

(ii) can report a statistical P value for each gene to indicate how likely it is to be horizontally transferred, and

(iii) is fully automated (requires minimal human intervention), as well as very easy to install and run.

Address of the bookmark: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626719/

CheckM:Assessing the quality of microbial genomes recovered from isolates, single cells, and metagenomes

Rahul Nayak — Wed, 23 May 2018 04:39:26 -0500

CheckM provides a set of tools for assessing the quality of genomes recovered from isolates, single cells, or metagenomes. It provides robust estimates of genome completeness and contamination by using collocated sets of genes that are ubiquitous and single-copy within a phylogenetic lineage. Assessment of genome quality can also be examined using plots depicting key genomic characteristics (e.g., GC, coding density) which highlight sequences outside the expected distributions of a typical genome. CheckM also provides tools for identifying genome bins that are likely candidates for merging based on marker set compatibility, similarity in genomic characteristics, and proximity within a reference genome tree.

Address of the bookmark: http://ecogenomics.github.io/CheckM/

BASE: a practical de novo assembler for large genomes using long NGS reads

Rahul Nayak — Fri, 19 Oct 2018 07:25:21 -0500

new de novo assembler called BASE. It enhances the classic seed-extension approach by indexing the reads efficiently to generate adaptive seeds that have high probability to appear uniquely in the genome. Such seeds form the basis for BASE to build extension trees and then to use reverse validation to remove the branches based on read coverage and paired-end information, resulting in high-quality consensus sequences of reads sharing the seeds. Such consensus sequences are then extended to contigs.

Address of the bookmark: https://github.com/dhlbh/BASE

CAT/BAT: tool for taxonomic classification of contigs and metagenome-assembled genomes (MAGs)

Jit — Mon, 18 May 2020 10:53:32 -0500

Contig Annotation Tool (CAT) and Bin Annotation Tool (BAT) are pipelines for the taxonomic classification of long DNA sequences and metagenome assembled genomes (MAGs/bins) of both known and (highly) unknown microorganisms, as generated by contemporary metagenomics studies. The core algorithm of both programs involves gene calling, mapping of predicted ORFs against the nr protein database, and voting-based classification of the entire contig / MAG based on classification of the individual ORFs. CAT and BAT can be run from intermediate steps if files are formated appropriately (see Usage).

Address of the bookmark: https://github.com/dutilh/CAT

IRscope: an online program to visualize the junction sites of chloroplast genomes

Neel — Wed, 25 Nov 2020 19:44:46 -0600

eMPRess, a software program for phylogenetic tree reconciliation under the duplication-transfer-loss model that systematically addresses the problems of choosing event costs and selecting representative solutions, enabling users to make more robust inferences.

Address of the bookmark: https://sites.google.com/g.hmc.edu/empress/home