Chromonomer: A Tool Set for Repairing and Enhancing Assembled Genomes Through Integration of Genetic Maps and Conserved Synteny

The pace of the sequencing and computational assembly of novel reference genomes is accelerating. Though DNA sequencing technologies and assembly software tools continue to improve, biological features of genomes such as repetitive sequence as well as molecular artifacts that often accompany sequenc...

Full description

Bibliographic Details
Main Authors: Julian Catchen, Angel Amores, Susan Bassham
Format: Article
Language:English
Published: Oxford University Press 2020-11-01
Series:G3: Genes, Genomes, Genetics
Subjects:
Online Access:http://g3journal.org/lookup/doi/10.1534/g3.120.401485
_version_ 1818882820949409792
author Julian Catchen
Angel Amores
Susan Bassham
author_facet Julian Catchen
Angel Amores
Susan Bassham
author_sort Julian Catchen
collection DOAJ
description The pace of the sequencing and computational assembly of novel reference genomes is accelerating. Though DNA sequencing technologies and assembly software tools continue to improve, biological features of genomes such as repetitive sequence as well as molecular artifacts that often accompany sequencing library preparation can lead to fragmented or chimeric assemblies. If left uncorrected, defects like these trammel progress on understanding genome structure and function, or worse, positively mislead this research. Fortunately, integration of additional, independent streams of information, such as a marker-dense genetic map and conserved orthologous gene order from related taxa, can be used to scaffold together unlinked, disordered fragments and to restructure a reference genome where it is incorrectly joined. We present a tool set for automating these processes, one that additionally tracks any changes to the assembly and to the genetic map, and which allows the user to scrutinize these changes with the help of web-based, graphical visualizations. Chromonomer takes a user-defined reference genome, a map of genetic markers, and, optionally, conserved synteny information to construct an improved reference genome of chromosome models: a “chromonome”. We demonstrate Chromonomer’s performance on genome assemblies and genetic maps that have disparate characteristics and levels of quality.
first_indexed 2024-12-19T15:23:50Z
format Article
id doaj.art-b3b1584268c649ff9d11c2686c1ef7e8
institution Directory Open Access Journal
issn 2160-1836
language English
last_indexed 2024-12-19T15:23:50Z
publishDate 2020-11-01
publisher Oxford University Press
record_format Article
series G3: Genes, Genomes, Genetics
spelling doaj.art-b3b1584268c649ff9d11c2686c1ef7e82022-12-21T20:15:56ZengOxford University PressG3: Genes, Genomes, Genetics2160-18362020-11-0110114115412810.1534/g3.120.40148521Chromonomer: A Tool Set for Repairing and Enhancing Assembled Genomes Through Integration of Genetic Maps and Conserved SyntenyJulian CatchenAngel AmoresSusan BasshamThe pace of the sequencing and computational assembly of novel reference genomes is accelerating. Though DNA sequencing technologies and assembly software tools continue to improve, biological features of genomes such as repetitive sequence as well as molecular artifacts that often accompany sequencing library preparation can lead to fragmented or chimeric assemblies. If left uncorrected, defects like these trammel progress on understanding genome structure and function, or worse, positively mislead this research. Fortunately, integration of additional, independent streams of information, such as a marker-dense genetic map and conserved orthologous gene order from related taxa, can be used to scaffold together unlinked, disordered fragments and to restructure a reference genome where it is incorrectly joined. We present a tool set for automating these processes, one that additionally tracks any changes to the assembly and to the genetic map, and which allows the user to scrutinize these changes with the help of web-based, graphical visualizations. Chromonomer takes a user-defined reference genome, a map of genetic markers, and, optionally, conserved synteny information to construct an improved reference genome of chromosome models: a “chromonome”. We demonstrate Chromonomer’s performance on genome assemblies and genetic maps that have disparate characteristics and levels of quality.http://g3journal.org/lookup/doi/10.1534/g3.120.401485genome assemblygenetic mapradseqconserved synteny
spellingShingle Julian Catchen
Angel Amores
Susan Bassham
Chromonomer: A Tool Set for Repairing and Enhancing Assembled Genomes Through Integration of Genetic Maps and Conserved Synteny
G3: Genes, Genomes, Genetics
genome assembly
genetic map
radseq
conserved synteny
title Chromonomer: A Tool Set for Repairing and Enhancing Assembled Genomes Through Integration of Genetic Maps and Conserved Synteny
title_full Chromonomer: A Tool Set for Repairing and Enhancing Assembled Genomes Through Integration of Genetic Maps and Conserved Synteny
title_fullStr Chromonomer: A Tool Set for Repairing and Enhancing Assembled Genomes Through Integration of Genetic Maps and Conserved Synteny
title_full_unstemmed Chromonomer: A Tool Set for Repairing and Enhancing Assembled Genomes Through Integration of Genetic Maps and Conserved Synteny
title_short Chromonomer: A Tool Set for Repairing and Enhancing Assembled Genomes Through Integration of Genetic Maps and Conserved Synteny
title_sort chromonomer a tool set for repairing and enhancing assembled genomes through integration of genetic maps and conserved synteny
topic genome assembly
genetic map
radseq
conserved synteny
url http://g3journal.org/lookup/doi/10.1534/g3.120.401485
work_keys_str_mv AT juliancatchen chromonomeratoolsetforrepairingandenhancingassembledgenomesthroughintegrationofgeneticmapsandconservedsynteny
AT angelamores chromonomeratoolsetforrepairingandenhancingassembledgenomesthroughintegrationofgeneticmapsandconservedsynteny
AT susanbassham chromonomeratoolsetforrepairingandenhancingassembledgenomesthroughintegrationofgeneticmapsandconservedsynteny