BOL: Related items

Metassembler: merging and optimizing de novo genome assemblies

Rahul Nayak — Tue, 08 May 2018 04:52:33 -0500

Metassembler combines multiple whole genome de novo assemblies into a combined consensus assembly using the best segments of the individual assemblies.

Genome assembly projects typically run multiple algorithms in an attempt to find the single best assembly, although those assemblies often have complementary, if untapped, strengths and weaknesses. We present our metassembler algorithm that merges multiple assemblies of a genome into a single superior sequence.

Address of the bookmark: https://sourceforge.net/projects/metassembler/?source=directory

ARC: pipeline which facilitates iterative, reference guided de novo assemblies

Jit — Thu, 26 Jul 2018 09:20:26 -0500

ARC is a pipeline which facilitates iterative, reference guided de novo assemblies with the intent of:

Reducing time in analysis and increasing accuracy of results by only considering those reads which should assemble together.
Reducing/removing reference bias as compared to mapping based approaches.

The software is designed to work in situations where a whole-genome assembly is not the objective, but rather when the researcher wishes to assemble discreet 'targets' contained within next-generation shotgun sequence data. ARC decomplexifies the traditionally difficult problem of assembly by breaking the reads into small, manageable subsets which can then be assembled quickly and efficiently in parallel. Applications include those in which the researcher wishes to de novo assemble specific content and a set of semi-similar reference targets is available to initialize the assembly process.

https://ibest.github.io/ARC/

Address of the bookmark: https://ibest.github.io/ARC/

NovoGraph: building whole genome graphs from long-read-based de novo assemblies

Jit — Thu, 15 Nov 2018 12:48:30 -0600

NovoGraph: building whole genome graphs from long-read-based de novo assemblies

An algorithmically novel approach to construct a genome graph representation of long-read-based de novo sequence assemblies. We then provide a proof of principle by creating a genome graph of seven ethnically-diverse human genomes.

https://f1000research.com/articles/7-1391/v1

Address of the bookmark: https://github.com/NCBI-Hackathons/NovoGraph

ContigExtender: a new approach to improving de novo sequence assembly for viral metagenomics data

LEGE — Wed, 08 May 2024 07:32:45 -0500

ContigExtender, was developed to extend contigs, complementing de novo assembly. ContigExtender employs a novel recursive Overlap Layout Candidates (r-OLC) strategy that explores multiple extending paths to achieve longer and highly accurate contigs. ContigExtender is effective for extending contigs significantly in in silico synthesized and real metagenomics datasets.

More at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7953547/

Address of the bookmark: https://github.com/dengzac/contig-extender

Translational Bioinformatics: Transforming 300 Billion Points of Data

Tue, 20 Aug 2013 19:03:47 -0500

Translational Bioinformatics: Transforming 300 Billion Points of Data into Diagnostics, Therapeutics, and New Insights into Disease Air date: Wednesday, June 20, 2012, 3:00:00 PM Time displayed is Eastern Time, Washington DC Local Description: There is an urgent need to translate genome-era discoveries into clinical utility, but the difficulties in making bench-to-bedside translations haven't been well described. The nascent field of translational bioinformatics may help. Dr. Butte's lab at Stanford University builds and applies tools that convert more than 300 billion points of molecular, clinical, and epidemiological data (measured by researchers and clinicians over the past decade) into diagnostics, therapeutics, and new insights into disease. Dr. Butte, a bioinformatician and pediatric endocrinologist, will highlight his lab's work on using publicly available molecular measurements to find new uses for drugs, discovering new treatable mechanisms of disease in type 2 diabetes, and evaluating patients presenting with whole genomes sequenced. The NIH Wednesday Afternoon Lecture Series includes weekly scientific talks by some of the top researchers in the biomedical sciences worldwide. For more information, visit: The NIH Director's Wednesday Afternoon Lecture Series Author: Atul Butte, M.D., Ph.D., Stanford University Runtime: 01:07:42 Permanent link: http://videocast.nih.gov/launch.asp?17321

ANGES: reconstructing ANcestral GEnomeS maps

Abhimanyu Singh — Thu, 18 May 2017 05:27:08 -0500

This page contains the software ANGES 1.01, that aims at reconstucting ancestral genome maps from homologous markers in extant related genomes.

Download

Program, version 1.01 (July 10, 2012, documentation updated in August 2014)
Examples with results (featured ancestors: boreoeutherian, amniote, yeasts, Burkholderia, monocots); please refer to the documentation of the distribution above.

Address of the bookmark: http://paleogenomics.irmacs.sfu.ca/ANGES/

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/

Unicycler: Hybrid assembly pipeline for bacterial genomes

Jit — Fri, 10 Nov 2017 03:58:27 -0600

Unicycler is an assembly pipeline for bacterial genomes. It can assemble Illumina-only read sets where it functions as a SPAdes-optimiser. It can also assembly long-read-only sets (PacBio or Nanopore) where it runs a miniasm+Racon pipeline. For the best possible assemblies, give it both Illumina reads and long reads, and it will conduct a hybrid assembly.

Address of the bookmark: https://github.com/rrwick/Unicycler

Meraculous: Haplotype-sensitive Assembly of Highly Heterozygous genomes.

Jit — Wed, 20 Dec 2017 18:59:42 -0600

Meraculous is a whole genome assembler for Next Generation Sequencing data geared for large genomes. It is a hybrid k-mer/read-based assembler that capitalizes on the high accuracy of Illumina sequence by eschewing an explicit error correction step which we argue to be redundant with the assembly process. Meraculous achieves high performance with large datasets by utilizing lightweight data structures and multi-threaded parallelization, allowing to assemble human-sized genomes on commodity clusters in under a day. The process pipeline implements a highly transparent and portable model of job control and monitoring where different assembly stages can be executed and re-executed separately or in unison on a wide variety of architectures.

https://jgi.doe.gov/data-and-tools/meraculous/

https://arxiv.org/ftp/arxiv/papers/1703/1703.09852.pdf

Address of the bookmark: https://sourceforge.net/projects/meraculous20/