AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data
Rare autosomal recessive diseases are a major cause of mortality and morbidity. They occur more frequently in individuals with consanguineous parents, in which case the pathogenic variants are often located within regions of genetic identity by descent. A well-established and effective way of identi...
Saved in:
| Main Authors: | , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2025-06-01
|
| Series: | Biology |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2079-7737/14/6/666 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849432736318619648 |
|---|---|
| author | Christopher M. Watson Carolina Lascelles Morag Raynor Marilena Elpidorou Ummey Hany Laura Crinnion Colin A. Johnson Eamonn Sheridan Alexander F. Markham James A. Poulter David T. Bonthron Ian M. Carr |
| author_facet | Christopher M. Watson Carolina Lascelles Morag Raynor Marilena Elpidorou Ummey Hany Laura Crinnion Colin A. Johnson Eamonn Sheridan Alexander F. Markham James A. Poulter David T. Bonthron Ian M. Carr |
| author_sort | Christopher M. Watson |
| collection | DOAJ |
| description | Rare autosomal recessive diseases are a major cause of mortality and morbidity. They occur more frequently in individuals with consanguineous parents, in which case the pathogenic variants are often located within regions of genetic identity by descent. A well-established and effective way of identifying these “autozygous” genomic regions has been to search for runs of homozygous genotypes in microarray SNP data. However, with the widespread use of whole-genome and exome sequencing in both diagnostic and research settings, it has become desirable to be able to both map autozygous regions and identify the deleterious variants using a single dataset. We have developed AgileMultiIdeogram, an application that can identify and visualize autozygous regions in inbred individuals using exome data as well as microarray SNP genotype data. This application has been successfully used in both research and diagnostic settings to map pathogenic mutations. |
| format | Article |
| id | doaj-art-9fef71f80ef24022bbe7150a441333e6 |
| institution | Kabale University |
| issn | 2079-7737 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biology |
| spelling | doaj-art-9fef71f80ef24022bbe7150a441333e62025-08-20T03:27:17ZengMDPI AGBiology2079-77372025-06-0114666610.3390/biology14060666AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing DataChristopher M. Watson0Carolina Lascelles1Morag Raynor2Marilena Elpidorou3Ummey Hany4Laura Crinnion5Colin A. Johnson6Eamonn Sheridan7Alexander F. Markham8James A. Poulter9David T. Bonthron10Ian M. Carr11North East and Yorkshire Genomic Laboratory Hub, St James’s University Hospital, Leeds LS9 7TF, UKSchool of Medicine, University of Leeds, St James’s University Hospital, West Yorkshire, Leeds LS9 7TF, UKSchool of Medicine, University of Leeds, St James’s University Hospital, West Yorkshire, Leeds LS9 7TF, UKSchool of Medicine, University of Leeds, St James’s University Hospital, West Yorkshire, Leeds LS9 7TF, UKSchool of Medicine, University of Leeds, St James’s University Hospital, West Yorkshire, Leeds LS9 7TF, UKNorth East and Yorkshire Genomic Laboratory Hub, St James’s University Hospital, Leeds LS9 7TF, UKSchool of Medicine, University of Leeds, St James’s University Hospital, West Yorkshire, Leeds LS9 7TF, UKSchool of Medicine, University of Leeds, St James’s University Hospital, West Yorkshire, Leeds LS9 7TF, UKSchool of Medicine, University of Leeds, St James’s University Hospital, West Yorkshire, Leeds LS9 7TF, UKSchool of Medicine, University of Leeds, St James’s University Hospital, West Yorkshire, Leeds LS9 7TF, UKSchool of Medicine, University of Leeds, St James’s University Hospital, West Yorkshire, Leeds LS9 7TF, UKSchool of Medicine, University of Leeds, St James’s University Hospital, West Yorkshire, Leeds LS9 7TF, UKRare autosomal recessive diseases are a major cause of mortality and morbidity. They occur more frequently in individuals with consanguineous parents, in which case the pathogenic variants are often located within regions of genetic identity by descent. A well-established and effective way of identifying these “autozygous” genomic regions has been to search for runs of homozygous genotypes in microarray SNP data. However, with the widespread use of whole-genome and exome sequencing in both diagnostic and research settings, it has become desirable to be able to both map autozygous regions and identify the deleterious variants using a single dataset. We have developed AgileMultiIdeogram, an application that can identify and visualize autozygous regions in inbred individuals using exome data as well as microarray SNP genotype data. This application has been successfully used in both research and diagnostic settings to map pathogenic mutations.https://www.mdpi.com/2079-7737/14/6/666rare recessive diseasenext-generation sequencingautozygosity mapping |
| spellingShingle | Christopher M. Watson Carolina Lascelles Morag Raynor Marilena Elpidorou Ummey Hany Laura Crinnion Colin A. Johnson Eamonn Sheridan Alexander F. Markham James A. Poulter David T. Bonthron Ian M. Carr AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data Biology rare recessive disease next-generation sequencing autozygosity mapping |
| title | AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data |
| title_full | AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data |
| title_fullStr | AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data |
| title_full_unstemmed | AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data |
| title_short | AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data |
| title_sort | agilemultiideogram rapid identification and visualization of autozygous regions using illumina short read sequencing data |
| topic | rare recessive disease next-generation sequencing autozygosity mapping |
| url | https://www.mdpi.com/2079-7737/14/6/666 |
| work_keys_str_mv | AT christophermwatson agilemultiideogramrapididentificationandvisualizationofautozygousregionsusingilluminashortreadsequencingdata AT carolinalascelles agilemultiideogramrapididentificationandvisualizationofautozygousregionsusingilluminashortreadsequencingdata AT moragraynor agilemultiideogramrapididentificationandvisualizationofautozygousregionsusingilluminashortreadsequencingdata AT marilenaelpidorou agilemultiideogramrapididentificationandvisualizationofautozygousregionsusingilluminashortreadsequencingdata AT ummeyhany agilemultiideogramrapididentificationandvisualizationofautozygousregionsusingilluminashortreadsequencingdata AT lauracrinnion agilemultiideogramrapididentificationandvisualizationofautozygousregionsusingilluminashortreadsequencingdata AT colinajohnson agilemultiideogramrapididentificationandvisualizationofautozygousregionsusingilluminashortreadsequencingdata AT eamonnsheridan agilemultiideogramrapididentificationandvisualizationofautozygousregionsusingilluminashortreadsequencingdata AT alexanderfmarkham agilemultiideogramrapididentificationandvisualizationofautozygousregionsusingilluminashortreadsequencingdata AT jamesapoulter agilemultiideogramrapididentificationandvisualizationofautozygousregionsusingilluminashortreadsequencingdata AT davidtbonthron agilemultiideogramrapididentificationandvisualizationofautozygousregionsusingilluminashortreadsequencingdata AT ianmcarr agilemultiideogramrapididentificationandvisualizationofautozygousregionsusingilluminashortreadsequencingdata |