AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data

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...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: MDPI AG 2025-06-01
Series:Biology
Subjects:
rare recessive disease
next-generation sequencing
autozygosity mapping
Online Access:https://www.mdpi.com/2079-7737/14/6/666
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