A survey of current methods to detect and genotype inversions. Issue 11 (19th September 2022)

• Record Type: Journal Article
• Authors: Hanlon, Vincent C. T.; Lansdorp, Peter M.; Guryev, Victor
• Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor.
• Is Part Of: Human mutation. Volume 43:Issue 11(2022)
• Page Start: 1576
• Page End: 1589
• Publication Date: 2022-09-19
• Subjects: inversions -- methods -- review -- Bionano -- genome assembly -- inverse PCR -- inversion mapping -- Strand‐seq; Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.24458
• Languages: English
• ISSNs: 1059-7794

Abstract

Abstract: Polymorphic inversions are ubiquitous in humans and they have been linked to both adaptation and disease. Following their discovery in Drosophila more than a century ago, inversions have proved to be more elusive than other structural variants. A wide variety of methods for the detection and genotyping of inversions have recently been developed: multiple techniques based on selective amplification by PCR, short‐ and long‐read sequencing approaches, principal component analysis of small variant haplotypes, template strand sequencing, optical mapping, and various genome assembly methods. Many methods apply complex wet lab protocols or increasingly refined bioinformatic analyses. This review is an attempt to provide a practical summary and comparison of the methods that are in current use, with a focus on metrics such as the maximum size of segmental duplications at inversion breakpoints that each method can tolerate, the size range of inversions that they recover, their throughput, and whether the locations of putative inversions must be known beforehand.